Maaike Vreeswijk
- Naam
- M.P.G. Vreeswijk
- ORCID iD
- 0000-0003-4068-9271
- Moghadasi, S.; Zanti, M.; Bleeker, F.; Blok, M.; Braspenning, M.E.; Cerna, M.; Collee, M.J.; Engel, C.; Hopman, S.; Kleiblova, P.; Koole, W.; Mensenkamp, A.; Overwater, E.; Palmero, E.I.; Blok, L.S.; Storm, K.; Stringa, N.; Wevers, M.R.; Vreeswijk, M.P.G.; Goldgar, D.; Michailidou, K. & García, E.B.G. (2025), Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance, Journal of Medical Genetics 63.
- Kramer, C.J.H.; Wijk, L.M. van; Ruano, D.; Gelpke-Vermeulen, S.; Tuin, K. van der; Stoep, N. van der; Wezel, T. van; Wesseling, J.; Vallon-Christersson, J.; Smit, V.T.H.B.M.; Cohen, D.; Vrieling, H.; Staaf, J.; Bosse, T.; Asperen, C.J. van & Vreeswijk, M.P.G. (2025), Capturing breast cancers' copy-number landscape in routine pathology, British Journal of Cancer 133(8): 1199-1207.
- Johnatty, S.E.; Tudini, E.; Parsons, M.T.; Michailidou, K.; Zanti, M.; Canson, D.M.; Davidson, A.L.; Berger, T.; Rosti, R.O.; Kratz, C.P.; Kalb, R.; McReynolds, L.J.; Giri, N.; Richardson, M.E.; Pesaran, T.; Surrallés, J.; Pujol, R.; Vundinti, B.R.; George, M.; Maxwell, K.N.; Nathanson, K.; Domchek, S.; Fiesco-Roa, M.O.; Frias, S.; Garcia-de-Teresa, B.; Jongmans, M.; Lalani, S.; Maiburg, M.; Prescott, K.; Robinson, R.; Rajagopalan, S.; Blok, L.S.; Temple, S.E.L.; Tucker, K.; Auerbach, A.D.; Cancio, M.I.; Kennedy, J.A.; MacMillan, M.L.; Tryon, R.; Wagner, J.E.; Walsh, M.; Boddicker, N.J.; Hu, C.L.; Weitzel, J.N.; Dingemans, A.J.M.; Hadler, J.; Rotenberg, N.; Ramadane-Morchadi, L.; Hoya, M. de la; James, P.; Hansen, T.V.; Vreeswijk, M.P.G.; Walker, L.C.; Sharan, S.K.; Easton, D.F.; Couch, F.; Smogorzewska, A.; Nelson, A.; Ngeow, J.; Tischkowitz, M.; Gomez-Garcia, E.; Spurdle, A.B.; CARRIERS Consortium; Breast Canc Assoc Consortium & ENIGMA Consortium (2025), BRCA1-, BRCA2-, and PALB2-related Fanconi anemia, American Journal of Human Genetics 112(12): 2902-2921.
- Parsons, M.T.; Hoya, M. de la; Richardson, M.E.; Tudini, E.; Anderson, M.; Berkofsky-Fessler, W.; Caputo, S.M.; Chan, R.C.; Cline, M.S.; Feng, B.J.; Fortuno, C.; Gomez-Garcia, E.; Hadler, J.; Hiraki, S.; Holdren, M.; Houdayer, C.; Hruska, K.; James, P.; Karam, R.; San Leong, H.; Martins, A.; Mensenkamp, A.R.; Monteiro, A.N.; Nathan, V.; O'Connor, R.; Pedersen, I.S.; Pesaran, T.; Radice, P.; Schmidt, G.; Southey, M.; Tavtigian, S.; Thompson, B.A.; Toland, A.E.; Turnbull, C.; Vogel, M.J.; Weyandt, J.; Wiggins, G.A.R.; Zec, L.; Couch, F.J.; Walker, L.C.; Vreeswijk, M.P.G.; Goldgar, D.E. & Spurdle, A.B. (2024), Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, American Journal of Human Genetics 111(9).
- Zanti, M.; O'Mahony, D.G.; Parsons, M.T.; Li, H.Y.; Dennis, J.; Aittomäkkiki, K.; Andrulis, I.L.; Anton-Culver, H.; Aronson, K.J.; Augustinsson, A.; Becher, H.; Bojesen, S.E.; Bolla, M.K.; Brenner, H.; Brown, M.A.; Buys, S.S.; Canzian, F.; Caputo, S.M.; Castelao, J.E.; Chang-Claude, J.; Czene, K.; Daly, M.B.; Nicolo, A. de; Devilee, P.; Dörk, T.; Dunning, A.M.; Dwek, M.; Eccles, D.M.; Engel, C.; Evans, D.G.; Fasching, P.A.; Gago-Dominguez, M.; García-Closas, M.; García-Sáenz, J.A.; Gentry-Maharaj, A.; Geurts-Giele, W.R.R.; Giles, G.G.; Glendon, G.; Goldberg, M.S.; Garcia, E.B.G.; Güendert, M.; Guénel, P.; Hahnen, E.; Haiman, C.A.; Hall, P.; Hamann, U.; Harkness, E.F.; Hogervorst, F.B.L.; Hollestelle, A.; Hoppe, R.; Hopper, J.L.; Houdayer, C.; Houlston, R.S.; Howell, A.; Investigators, A.; Jakimovska, M.; Jakubowska, A.; Jernström, H.; John, E.M.; Kaaks, R.; Kitahara, C.M.; Koutros, S.; Kraft, P.; Kristensen, V.N.; Lacey, J.; Lambrechts, D.; Léoné, M.; Lindblom, A.; Lush, M.; Mannermaa, A.; Manoochehri, M.; Manoukian, S.; Margolin, S.; Martinez, M.E.; Menon, U.; Milne, R.L.; Monteiro, A.N.; Murphy, R.A.; Neuhausen, S.L.; Nevanlinna, H.; Newman, W.G.; Offit, K.; Park, S.K.; James, P.; Peterlongo, P.; Peto, J.; Plaseska-Karanfilska, D.; Punie, K.; Radice, P.; Rashid, M.U.; Rennert, G.; Romero, A.; Rosenberg, E.H.; Saloustros, E.; Sandler, D.P.; Schmidt, M.K.; Schmutzler, R.K.; Shu, X.O.; Simard, J.; Southey, M.C.; Stone, J.; Stoppa-Lyonnet, D.; Tamimi, R.M.; Tapper, W.J.; Taylor, J.A.; Teo, S.H.; Teras, L.R.; Terry, M.B.; Thomassen, M.; Troester, M.A.; Vachon, C.M.; Vega, A.; Vreeswijk, M.P.G.; Wang, Q.; Wappenschmidt, B.; Weinberg, C.R.; Wolk, A.; Zheng, W.; Feng, B.J.; Couch, F.J.; Spurdle, A.B.; Easton, D.F.; Goldgar, D.E.; Michailidou, K. & GC-HBOC Study Collaborators (2023), a likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants, Human Mutation: Variation, Informatics and Disease 2023.
- Kramer, C.J.H.; Lanjouw, L.; Ruano, D.; Elst, A. ter; Santandrea, G.; Solleveld-Westerink, N.; Werner, N.; Hout, A.H. van der; Kroon, C.D. de; Wezel, T. van; Berger, L.P.; Jalving, M.; Wesseling, J.; Smit, V.T.H.B.M.; Bock, G.H. de; Asperen, C.J. van; Mourits, M.J.E.; Vreeswijk, M.P.G.; Bart, J. & Bosse, T. (2023), Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas, The Journal of Pathology 262(2).
- Sanoguera-Miralles, L.; Valenzuela-Palomo, A.; Bueno-Martínez, E.; Esteban-Sánchez, A.; Lorca, V.; Llinares-Burguet, I.; García-Alvarez, A.; Pérez-Segura, P.; Infante, M.; Easton, D.F.; Devilee, P.; Vreeswijk, M.P.G.; Hoya, M. de la & Velasco-Sampedro, E.A. (2023), Systematic minigene-based splicing analysis and tentative clinical classification of 52 CHEK2 splice-site variants, Clinical Chemistry 70(1).
- Wijk, L.M. van; Vermeulen, S.; Haar, N.T. ter; Kramer, C.J.H.; Terlouw, D.; Vrieling, H.; Cohen, D. & Vreeswijk, M.P.G. (2023), Performance of a RAD51-based functional HRD test on paraffin-embedded breast cancer tissue, Breast Cancer Research and Treatment 202.
- Kramer, C.J.H.; Llop-Guevara, A.; Yaniz-Galende, E.; Pellegrino, B.; Haar, N.T. ter; Herencia-Ropero, A.; Campanini, N.; Musolino, A.; Bosse, T.; Leary, A.; Serra, V. & Vreeswijk, M.P.G. (2023), RAD51 as a biomarker for homologous recombination deficiency in high-grade serous ovarian carcinoma, Journal of Pathology: Clinical Research 9(6): 442-448.
- Morra, A.; Mavaddat, N.; Muranen, T.A.; Ahearn, T.U.; Allen, J.; Andrulis, I.L.; Auvinen, P.; Becher, H.; Behrens, S.; Blomqvist, C.; Bojesen, S.E.; Bolla, M.K.; Brauch, H.; Camp, N.J.; Carvalho, S.; Castelao, J.E.; Cessna, M.H.; Chang-Claude, J.; Chenevix-Trench, G.; Czene, K.; Decker, B.; Dennis, J.; Dork, T.; Dorling, L.; Dunning, A.M.; Ekici, A.B.; Eriksson, M.; Evans, D.G.; Fasching, P.A.; Figueroa, J.D.; Flyger, H.; Gago-Dominguez, M.; Garcia-Closas, M.; Geurts-Giele, W.R.R.; Giles, G.G.; Guenel, P.; Gundert, M.; Hahnen, E.; Hall, P.; Hamann, U.; Harrington, P.A.; He, W.; Heikkila, P.; Hooning, M.J.; Hoppe, R.; Howell, A.; Humphreys, K.; Jakubowska, A.; Jung, A.Y.; Keeman, R.; Kristensen, V.N.; Lubinski, J.; Mannermaa, A.; Manoochehri, M.; Manoukian, S.; Margolin, S.; Mavroudis, D.; Milne, R.L.; Mulligan, A.M.; Newman, W.G.; Park-Simon, T.W.; Peterlongo, P.; Pharoah, P.D.P.; Rhenius, V.; Saloustros, E.; Sawyer, E.J.; Schmutzler, R.K.; Shah, M.; Spurdle, A.B.; Tomlinson, I.; Truong, T.; Veen, E.M. van; Vreeswijk, M.P.G.; Wang, Q.; Wendt, C.; Yang, X.H.R.; Nevanlinna, H.; Devilee, P.; Easton, D.F.; Schmidt, M.K.; NBCS Collaborators & kConFab Investigators (2023), The impact of coding germline variants on contralateral breast cancer risk and survival, American Journal of Human Genetics 110(3): 475-486.
- Wijk, L.M. van; Nilas, A.B.; Vrieling, H. & Vreeswijk, M.P.G. (2022), RAD51 as a functional biomarker for homologous recombination deficiency in cancer: a promising addition to the HRD toolbox?, Expert Review of Molecular Diagnostics 22(2): 185-199.
- Boonen, R.A.C.M.; Wiegant, W.W.; Celosse, N.; Vroling, B.; Heijl, S.; Kote-Jarai, Z.; Mijuskovic, M.; Cristea, S.; Solleveld-Westerink, N.; Wezel, T. van; Beerenwinkel, N.; Eeles, R.; Devilee, P.; Vreeswijk, M.P.G.; Marra, G. & Attikum, H. van (2022), Functional analysis identifies damaging CHEK2 missense variants associated with increased cancer risk, Cancer Research 82(4): 615-631.
- Mavaddat, N.; Dorling, L.; Carvalho, S.; Allen, J.; Gonzalez-Neira, A.; Keeman, R.; Bolla, M.K.; Dennis, J.; Wang, Q.; Ahearn, T.U.; Andrulis, I.L.; Beckmann, M.W.; Behrens, S.; Benitez, J.; Bermisheva, M.; Blomqvist, C.; Bogdanova, N.V.; Bojesen, S.E.; Briceno, I.; Bruning, T.; Camp, N.J.; Campbell, A.; Castelao, J.E.; Chang-Claude, J.; Chanock, S.J.; Chenevix-Trench, G.; Christiansen, H.; Czene, K.; Dork, T.; Eriksson, M.; Evans, D.G.; Fasching, P.A.; Figueroa, J.D.; Flyger, H.; Gabrielson, M.; Gago-Dominguez, M.; Geisler, J.; Giles, G.G.; Guenel, P.; Hadjisavvas, A.; Hahnen, E.; Hall, P.; Hamann, U.; Hartikainen, J.M.; Hartman, M.; Hoppe, R.; Howell, A.; Jakubowska, A.; Jung, A.; Khusnutdinova, E.K.; Kristensen, V.N.; Li, J.M.; Lim, S.H.; Lindblom, A.; Loizidou, M.A.; Lophatananon, A.; Lubinski, J.; Madsen, M.J.; Mannermaa, A.; Manoochehri, M.; Margolin, S.; Mavroudis, D.; Milne, R.L.; Taib, N.A.M.; Morra, A.; Muir, K.; Obi, N.; Osorio, A.; Park-Simon, T.W.; Peterlongo, P.; Radice, P.; Saloustros, E.; Sawyer, E.J.; Schmutzler, R.K.; Shah, M.; Sim, X.; Southey, M.C.; Thorne, H.; Tomlinson, I.; Torres, D.; Truong, T.; Yip, C.H.; Spurdle, A.B.; Vreeswijk, M.P.G.; Dunning, A.M.; Garcia-Closas, M.; Pharoah, P.D.P.; Kvist, A.; Muranen, T.A.; Nevanlinna, H.; Teo, S.H.; Devilee, P.; Schmidt, M.K.; Easton, D.F. & Breast Canc Assoc Consortium (2022), Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes, JAMA Oncology 8(3).
- Boonen, R.A.C.M.; Vreeswijk, M.P.G. & Attikum, H. van (2022), CHEK2 variants: linking functional impact to cancer risk, TRENDS IN CANCER 8(9): 759-770.
- Kramer, C.J.H.; Vreeswijk, M.P.G.; Thijssen, B.; Bosse, T. & Wesseling, J. (2022), Beyond the snapshot: optimizing prognostication and prediction by moving from fixed to functional multidimensional cancer pathology, The Journal of Pathology 257(4): 403-412.
- Dorling, L.; Carvalho, S.; Allen, J.; Parsons, M.T.; Fortuno, C.; Gonzalez-Neira, A.; Heijl, S.M.; Adank, M.A.; Ahearn, T.U.; Andrulis, I.L.; Auvinen, P.; Becher, H.; Beckmann, M.W.; Behrens, S.; Bermisheva, M.; Bogdanova, N.V.; Bojesen, S.E.; Bolla, M.K.; Bremer, M.; Briceno, I.; Camp, N.J.; Campbell, A.; Castelao, J.E.; Chang-Claude, J.; Chanock, S.J.; Chenevix-Trench, G.; Collee, J.M.; Czene, K.; Dennis, J.; Dork, T.; Eriksson, M.; Evans, D.G.; Fasching, P.A.; Figueroa, J.; Flyger, H.; Gabrielson, M.; Gago-Dominguez, M.; Garcia-Closas, M.; Giles, G.G.; Glendon, G.; Guenel, P.; Gundert, M.; Hadjisavvas, A.; Hahnen, E.; Hall, P.; Hamann, U.; Harkness, E.F.; Hartman, M.; Hogervorst, F.B.L.; Hollestelle, A.; Hoppe, R.; Howell, A.; Jakubowska, A.; Jung, A.; Khusnutdinova, E.; Kim, S.W.; Ko, Y.D.; Kristensen, V.N.; Lakeman, I.M.M.; Li, J.M.; Lindblom, A.; Loizidou, M.A.; Lophatananon, A.; Lubinski, J.; Luccarini, C.; Madsen, M.J.; Mannermaa, A.; Manoochehri, M.; Margolin, S.; Mavroudis, D.; Milne, R.L.; Taib, N.A.M.; Muir, K.; Nevanlinna, H.; Newman, W.G.; Oosterwijk, J.C.; Park, S.K.; Peterlongo, P.; Radice, P.; Saloustros, E.; Sawyer, E.J.; Schmutzler, R.K.; Shah, M.T.; Sim, X.; Southey, M.C.; Surowy, H.; Suvanto, M.; Tomlinson, I.; Torres, D.; Truong, T.; Asperen, C.J. van; Waltes, R.; Wang, Q.; Yang, X.H.R.; Pharoah, P.D.P.; Schmidt, M.K.; Benitez, J.; Vroling, B.; Dunning, A.M.; Teo, S.H.; Kvist, A.; Hoya, M. de la; Devilee, P.; Spurdle, A.B.; Vreeswijk, M.P.G.; Easton, D.F.; NBCS Collaborators; KConFab Investigators & SGBCC Investigators (2022), Breast cancer risks associated with missense variants in breast cancer susceptibility genes, Genome Medicine 14(1).
- Bueno-Martinez, E.; Sanoguera-Miralles, L.; Valenzuela-Palomo, A.; Esteban-Sanchez, A.; Lorca, V.; Llinares-Burguet, I.; Allen, J.; Garcia-Alvarez, A.; Perez-Segura, P.; Duran, M.; Easton, D.F.; Devilee, P.; Vreeswijk, M.P.G.; Hoya, M. de la & Velasco-Sampedro, E.A. (2022), Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants, The Journal of Pathology 258(1): 83-101.
- Thomassen, M.; Mesman, R.L.S.; Hansen, T.V.O.; Menendez, M.; Rossing, M.; Esteban-Sanchez, A.; Tudini, E.; Torngren, T.; Parsons, M.T.; Pedersen, I.S.; Teo, S.H.; Kruse, T.A.; Moller, P.; Borg, A.; Jensen, U.B.; Christensen, L.L.; Singer, C.F.; Muhr, D.; Santamarina, M.; Brandao, R.; Andresen, B.S.; Feng, B.J.; Canson, D.; Richardson, M.E.; Karam, R.; Pesaran, T.; LaDuca, H.; Conner, B.R.; Abualkheir, N.; Hoang, L.; Calleja, F.M.G.R.; Andrews, L.; James, P.A.; Bunyan, D.; Hamblett, A.; Radice, P.; Goldgar, D.E.; Walker, L.C.; Engel, C.; Claes, K.B.M.; Machackova, E.; Baralle, D.; Viel, A.; Wappenschmidt, B.; Lazaro, C.; Vega, A.; Vreeswijk, M.P.G.; Hoya, M. de la; Spurdle, A.B. & ENIGMA Consortium (2022), Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants, Human Mutation: Variation, Informatics and Disease 43(12): 1921-1944.
- Valenzuela-Palomo, A.; Bueno-Martinez, E.; Sanoguera-Miralles, L.; Lorca, V.; Fraile-Bethencourt, E.; Esteban-Sanchez, A.; Gomez-Barrero, S.; Carvalho, S.; Allen, J.; Garcia-Alvarez, A.; Perez-Segura, P.; Dorling, L.; Easton, D.F.; Devilee, P.; Vreeswijk, M.P.G.; Hoya, M. de la & Velasco, E.A. (2021), Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants, The Journal of Pathology 256(3).
- Dorling, L.; Carvalho, S.; Allen, J.; Gonzalez-Neira, A.; Luccarini, C.; Wahlstrom, C.; Pooley, K.A.; Parsons, M.T.; Fortuno, C.; Wang, Q.; Bolla, M.K.; Dennis, J.; Keeman, R.; Alonso, M.R.; Alvarez, N.; Herraez, B.; Fernandez, V.; Nunez-Torres, R.; Osorio, A.; Valcich, J.; Li, M.; Torngren, T.; Harrington, P.A.; Baynes, C.; Conroy, D.M.; Decker, B.; Fachal, L.; Mavaddat, N.; Ahearn, T.; Aittomaki, K.; Antonenkova, N.N.; Arnold, N.; Arveux, P.; Ausems, M.G.E.M.; Auvinen, P.; Becher, H.; Beckmann, M.W.; Behrens, S.; Bermisheva, M.; Bialkowska, K.; Blomqvist, C.; Bogdanova, N.V.; Bogdanova-Markov, N.; Bojesen, S.E.; Bonanni, B.; Borresen-Dale, A.L.; Brauch, H.; Bremer, M.; Briceno, I.; Bruning, T.; Burwinkel, B.; Cameron, D.A.; Camp, N.J.; Campbell, A.; Carracedo, A.; Castelao, J.E.; Cessna, M.H.; Chanock, S.J.; Christiansen, H.; Collee, J.M.; Cordina-Duverger, E.; Cornelissen, S.; Czene, K.; Dork, T.; Ekici, A.B.; Engel, C.; Eriksson, M.; Fasching, P.A.; Figueroa, J.; Flyger, H.; Forsti, A.; Gabrielson, M.; Gago-Dominguez, M.; Georgoulias, V.; Gil, F.; Giles, G.G.; Glendon, G.; Garcia, E.B.G.; Alnaes, G.I.G.; Guenel, P.; Hadjisavvas, A.; Haeberle, L.; Hahnen, E.; Hall, P.; Hamann, U.; Harkness, E.F.; Hartikainen, J.M.; Hartman, M.; He, W.; Heemskerk-Gerritsen, B.A.M.; Hillemanns, P.; Hogervorst, F.B.L.; Hollestelle, A.; Ho, W.K.; Hooning, M.J.; Howell, A.; Humphreys, K.; Idris, F.; Jakubowska, A.; Jung, A.; Kapoor, P.M.; Kerin, M.J.; Khusnutdinova, E.; Kim, S.W.; Ko, Y.D.; Kosma, V.M.; Kristensen, V.N.; Kyriacou, K.; Lakeman, I.M.M.; Lee, J.W.; Lee, M.H.; Li, J.M.; Lindblom, A.; , W.Y. lo; Loizidou, M.A.; Lophatananon, A.; Lubinski, J.; MacInnis, R.J.; Madsen, M.J.; Mannermaa, A.; Manoochehri, M.; Manoukian, S.; Margolin, S.; Martinez, M.E.; Maurer, T.; Mavroudis, D.; McLean, C.; Meindl, A.; Mensenkamp, A.R.; Michailidou, K.; Miller, N.; Taib, N.A.M.; Muir, K.; Mulligan, A.M.; Nevanlinna, H.; Newman, W.G.; Nordestgaard, B.G.; Ng, P.S.; Oosterwijk, J.C.; Park, S.K.; Park-Simon, T.W.; Perez, J.I.A.; Peterlongo, P.; Porteous, D.J.; Prajzendanc, K.; Prokofyeva, D.; Radice, P.; Rashid, M.U.; Rhenius, V.; Rookus, M.A.; Rudiger, T.; Saloustros, E.; Sawyer, E.J.; Schmutzler, R.K.; Schneeweiss, A.; Schurmann, P.; Shah, M.; Sohn, C.; Southey, M.C.; Surowy, H.; Suvanto, M.; Thanasitthichai, S.; Tomlinson, I.; Torres, D.; Truong, T.; Tzardi, M.; Valova, Y.; Asperen, C.J. van; Dam, R.M. van; Ouweland, A.M.W. van den; Kolk, L.E. van der; Veen, E.M. van; Wendt, C.; Williams, J.A.; Yang, X.H.R.; Yoon, S.Y.; Zamora, M.P.; Evans, D.G.; Hoya, M. de la; Simard, J.; Antoniou, A.C.; Borg, A.; Andrulis, I.L.; Chang-Claude, J.; Garcia-Closas, M.; Chenevix-Trench, G.; Milne, R.L.; Pharoah, P.D.P.; Schmidt, M.K.; Spurdle, A.B.; Vreeswijk, M.P.G.; Benitez, J.; Dunning, A.M.; Kvist, A.; Teo, S.H.; Devilee, P.; Easton, D.F. & Breast Canc Assoc Consortium (2021), Breast cancer risk genes, New England Journal of Medicine 384(5): 428-439.
- Bueno-Martinez, E.; Sanoguera-Miralles, L.; Valenzuela-Palomo, A.; Lorca, V.; Gomez-Sanz, A.; Carvalho, S.; Allen, J.; Infante, M.; Perez-Segura, P.; Lazaro, C.; Easton, D.F.; Devilee, P.; Vreeswijk, M.P.G.; Hoya, M. de la & Velasco, E.A. (2021), RAD51D aberrant splicing in breast cancer, Cancers 13(11).
- Wijk, L.M. van; Kramer, C.J.H.; Vermeulen, S.; Haar, N.T. ter; Jonge, M.M. de; Kroep, J.R.; Kroon, C.D. de; Gaarenstroom, K.N.; Vrieling, H.; Bosse, T. & Vreeswijk, M.P.G. (2021), 'The RAD51-FFPE Test; Calibration of a Functional Homologous Recombination Deficiency Test on Diagnostic Endometrial and Ovarian Tumor Blocks, Cancers 13(12): 2994.
- Meulemans, L.; Mesman, R.L.S.; Caputo, S.M.; Krieger, S.; Guillaud-Bataille, M.; Caux-Moncoutier, V.; Leone, M.; Boutry-Kryza, N.; Sokolowska, J.; Revillion, F.; Delnatte, C.; Tubeuf, H.; Soukarieh, O.; Bonnet-Dorion, F.; Guibert, V.; Bronner, M.; Bourdon, V.; Lizard, S.; Vilquin, P.; Privat, M.; Drouet, A.; Grout, C.; Calleja, F.M.G.R.; Golmard, L.; Vrieling, H.; Stoppa-Lyonnet, D.; Houdayer, C.; Frebourg, T.; Vreeswijk, M.P.G.; Martins, A. & Gaildrat, P. (2020), Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12, Cancer Research 80(7): 1374-1386.
- Mesman, R.L.S.; Calleja, F.M.G.R.; Hoya, M. de la; Devilee, P.; Asperen, C.J. van; Vrieling, H. & Vreeswijk, M.P.G. (2020), Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2, Genetics in Medicine 22(8): 1355-1365.
- Sanoguera-Miralles, L.; Valenzuela-Palomo, A.; Bueno-Martinez, E.; Llovet, P.; Diez-Gomez, B.; Caloca, M.J.; Perez-Segura, P.; Fraile-Bethencourt, E.; Colmena, M.; Carvalho, S.; Allen, J.; Easton, D.F.; Devilee, P.; Vreeswijk, M.P.G.; Hoya, M. de la & Velasco, E.A. (2020), Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the RAD51C gene, Cancers 12(12).
- Groot, S. de; Lugtenberg, R.T.; Cohen, D.; Welters, M.J.P.; Ehsan, I.; Vreeswijk, M.P.G.; Smit, V.T.H.B.M.; Graaf, H. de; Heijns, J.B.; Portielje, J.E.A.; Wouw, A.J. van de; Imholz, A.L.T.; Kessels, L.W.; Vrijaldenhoven, S.; Baars, A.; Kranenbarg, E.M.K.; Duijm-de Carpentier, M.; Putter, H.; Hoeven, J.J.M. van der; Nortier, J.W.R.; Longo, V.D.; Pijl, H.; Kroep, J.R.; Goker, E.; Pas, A.J.M.; Honkoop, A.H. & Dutch Breast Canc Res Grp BOOG (2020), Fasting mimicking diet as an adjunct toneoadjuvant chemotherapy for breast cancer in the multicentre randomized phase 2 DIRECT trial, Nature Communications 11(1).
- Bouwman, P.; Heijden, I. van der; Gulden, H. van der; Bruijn, R. de; Braspenning, M.E.; Moghadasi, S.; Wessels, L.F.A.; Vreeswijk, M.P.G. & Jonkers, J. (2020), Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays, Clinical Cancer Research 26(17): 4559-4568.
- Wijk, L.M. van; Vermeulen, S.; Meijers, M.; Diest, M.F. van; Haar, N.T. ter; Jonge, M.M. de; Solleveld-Westerink, N.; Wezel, T. van; Gent, D.C. van; Kroep, J.R.; Bosse, T.; Gaarenstroom, K.N.; Vrieling, H. & Vreeswijk, M.P.G. (2020), The RECAP test rapidly and reliably identifies homologous recombination-deficient ovarian carcinomas, Cancers 12(10).
- Monteiro, A.N.; Bouwman, P.; Kousholt, A.N.; Eccles, D.M.; Millot, G.A.; Masson, J.Y.; Schmidt, M.K.; Sharan, S.K.; Scully, R.; Wiesmuller, L.; Couch, F. & Vreeswijk, M.P.G. (2020), Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation, Journal of Medical Genetics 57(8): 509-518.
- Boonen, R.A.C.M.; Vreeswijk, M.P.G. & Attikum, H. van (2020), Functional characterization of PALB2 variants of uncertain significance: toward cancer risk and therapy response prediction, Frontiers in Molecular Biosciences 7.
- Jonge, M.M. de; Auguste, A.; Wijk, L.M. van; Schouten, P.C.; Meijers, M.; Haar, N.T. ter; Smit, V.T.H.B.M.; Nout, R.A.; Glaire, M.A.; Church, D.N.; Vrieling, H.; Job, B.; Boursin, Y.; Kroon, C.D. de; Rouleau, E.; Leary, A.; Vreeswijk, M.P.G. & Bosse, T. (2019), Frequent Homologous Recombination Deficiency in High-grade Endometrial Carcinomas, Clinical Cancer Research 25(3): 1087-1097.
- Lopez-Perolio, I.; Leman, R.; Behar, R.; Lattimore, V.; Pearson, J.F.; Castera, L.; Martins, A.; Vaur, D.; Goardon, N.; Davy, G.; Garre, P.; Garcia-Barberan, V.; Llovet, P.; Perez-Segura, P.; Diaz-Rubio, E.; Caldes, T.; Hruska, K.S.; Hsuan, V.; Wu, S.T.; Pesaran, T.; Karam, R.; Vallon-Christersson, J.; Borg, A.; Valenzuela-Palomo, A.; Velasco, E.A.; Southey, M.; Vreeswijk, M.P.G.; Devilee, P.; Kvist, A.; Spurdle, A.B.; Walker, L.C.; Krieger, S.; Hoya, M. de la & kConFab Investigators (2019), Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report, Journal of Medical Genetics 56(7): 453-460.
- Parsons, M.T.; Tudini, E.; Li, H.; Hahnen, E.; Wappenschmidt, B.; Feliubadalo, L.; Aalfs, C.M.; Agata, S.; Aittomaki, K.; Alducci, E.; Alonso-Cerezo, M.C.; Arnold, N.; Auber, B.; Austin, R.; Azzollini, J.; Balmana, J.; Barbieri, E.; Bartram, C.R.; Blanco, A.; Blumcke, B.; Bonache, S.; Bonanni, B.; Borg, A.; Bortesi, B.; Brunet, J.; Bruzzone, C.; Bucksch, K.; Cagnoli, G.; Caldes, T.; Caliebe, A.; Caligo, M.A.; Calvello, M.; Capone, G.L.; Caputo, S.M.; Carnevali, I.; Carrasco, E.; Caux-Moncoutier, V.; Cavalli, P.; Cini, G.; Clarke, E.M.; Concolino, P.; Cops, E.J.; Cortesi, L.; Couch, F.J.; Darder, E.; Hoya, M. de la; Dean, M.; Debatin, I.; Valle, J. del; Delnatte, C.; Derive, N.; Diez, O.; Ditsch, N.; Domchek, S.M.; Dutrannoy, V.; Eccles, D.M.; Ehrencrona, H.; Enders, U.; Evans, D.G.; Farra, C.; Faust, U.; Felbor, U.; Feroce, I.; Fine, M.; Foulkes, W.D.; Galvao, H.C.; Gambino, G.; Gehrig, A.; Gensini, F.; Gerdes, A.M.; Germani, A.; Giesecke, J.; Gismondi, V.; Gomez, C.; Garcia, E.B.G.; Gonzalez, S.; Grau, E.; Grill, S.; Gross, E.; Guerrieri-Gonzaga, A.; Guillaud-Bataille, M.; Gutierrez-Enriquez, S.; Haaf, T.; Hackmann, K.; Hansen, T.V.; Harris, M.; Hauke, J.; Heinrich, T.; Hellebrand, H.; Herold, K.N.; Honisch, E.; Horvath, J.; Houdayer, C.; Hubbel, V.; Iglesias, S.; Izquierdo, A.; James, P.A.; Janssen, L.A.; Jeschke, U.; Kaulfuss, S.; Keupp, K.; Kiechle, M.; Kolbl, A.; Krieger, S.; Kruse, T.A.; Kvist, A.; Lalloo, F.; Larsen, M.; Lattimore, V.L.; Lautrup, C.; Ledig, S.; Leinert, E.; Lewis, A.L.; Lim, J.; Loeffler, M.; Lopez-Fernandez, A.; Lucci-Cordisco, E.; Maass, N.; Manoukian, S.; Marabelli, M.; Matricardi, L.; Meindl, A.; Michelli, R.D.; Moghadasi, S.; Moles-Fernandez, A.; Montagna, M.; Montalban, G.; Monteiro, A.N.; Montes, E.; Mori, L.; Moserle, L.; Muller, C.R.; Mundhenke, C.; Naldi, N.; Nathanson, K.L.; Navarro, M.; Nevanlinna, H.; Nichols, C.B.; Niederacher, D.; Nielsen, H.R.; Ong, K.R.; Pachter, N.; Palmero, E.I.; Papi, L.; Pedersen, I.S.; Peissel, B.; Perez-Segura, P.; Pfeifer, K.; Pineda, M.; Pohl-Rescigno, E.; Poplawski, N.K.; Porfirio, B.; Quante, A.S.; Ramser, J.; Reis, R.M.; Revillion, F.; Rhiem, K.; Riboli, B.; Ritter, J.; Rivera, D.; Rofes, P.; Rump, A.; Salinas, M.; Abajo, A.M.S. de; Schmidt, G.; Schoenwiese, U.; Seggewiss, J.; Solanes, A.; Steinemann, D.; Stiller, M.; Stoppa-Lyonnet, D.; Sullivan, K.J.; Susman, R.; Sutter, C.; Tavtigian, S.V.; Teo, S.H.; Teule, A.; Thomassen, M.; Tibiletti, M.G.; Tischkowitz, M.; Tognazzo, S.; Toland, A.E.; Tornero, E.; Torngren, T.; Torres-Esquius, S.; Toss, A.; Trainer, A.H.; Tucker, K.M.; Asperen, C.J. van; Mackelenbergh, M.T. van; Varesco, L.; Vargas-Parra, G.; Varon, R.; Vega, A.; Velasco, A.; Vesper, A.S.; Viel, A.; Vreeswijk, M.P.G.; Wagner, S.A.; Waha, A.; Walker, L.C.; Walters, R.J.; Wang-Gohrke, S.; Weber, B.H.F.; Weichert, W.; Wieland, K.; Wiesmuller, L.; Witzel, I.; Wockel, A.; Woodward, E.R.; Zachariae, S.; Zampiga, V.; Zeder-Goss, C.; Lazaro, C.; Nicolo, A. de; Radice, P.; Engel, C.; Schmutzler, R.K.; Goldgar, D.E.; Spurdle, A.B. & KConFab Investigators (2019), Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification, Human Mutation 40(9): 1557-1578.
- Mesman, R.L.S.; Calleja, F.M.G.R.; Hendriks, G.; Morolli, B.; Misovic, B.; Devilee, P.; Asperen, C.J. van; Vrieling, H. & Vreeswijk, M.P.G. (2019), The functional impact of variants of uncertain significance in BRCA2, Genetics in Medicine 21(2): 293-302.
- Jonge, M.M. de; Ritterhouse, L.L.; Kroon, C.D. de; Vreeswijk, M.P.G.; Segal, J.P.; Puranik, R.; Rookus, M.A.; Hogervorst, F.B.L.; Leeuwen, F.E. van; Adank, M.A.; Schmidt, M.K.; Jenner, D.J.; Collee, J.M.; Ouweland, A.M.W. van den; Hooning, M.J.; Boere, I.A.; Asperen, C.J. van; Devilee, P.; Luijt, R.B. van der; Cronenburg, T.C.T.E.F. van; Wevers, M.R.; Mensenkamp, A.R.; Ausems, M.G.E.M.; Koudijs, M.J.; Meijers-Heijboer, H.E.J.; Os, T.A.M. van; Engelen, K. van; Gille, J.J.P.; Gomez-Garcia, E.B.; Blok, M.J.; Boer, M. de; Oosterwijk, J.C.; Hout, A.H. van der; Mourits, M.J.; Bock, G.H. de; Siesling, S.; Verloop, J.; Broek, E.C. van den; Hollema, H.; Smit, V.T.H.B.M.; Howitt, B.E.; Bosse, T. & HEBON Grp (2019), Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity, Clinical Cancer Research 25(24): 7517-7526.
- Spurdle, A.B.; Greville-Heygate, S.; Antoniou, A.C.; Brown, M.; Burke, L.; Hoya, M. de la; Domchek, S.; Dork, T.; Firth, H.V.; Monteiro, A.N.; Mensenkamp, A.; Parsons, M.T.; Radice, P.; Robson, M.; Tischkowitz, M.; Tudini, E.; Turnbull, C.; Vreeswijk, M.P.G.; Walker, L.C.; Tavtigian, S. & Eccles, D.M. (2019), Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report, Journal of Medical Genetics 56(6): 347-357.
- Boonen, R.A.C.M.; Rodrigue, A.; Stoepker, C.; Wiegant, W.W.; Vroling, B.; Sharma, M.; Rother, M.B.; Celosse, N.; Vreeswijk, M.P.G.; Couch, F.; Simard, J.; Devilee, P.; Masson, J.Y. & Attikum, H. van (2019), Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2, Nature Communications 10.
- Lakeman, I.M.M.; Hilbers, F.S.; Rodriguez-Girondo, M.; Lee, A.; Vreeswijk, M.P.G.; Hollestelle, A.; Seynaeve, C.; Meijers-Heijboer, H.; Oosterwijk, J.C.; Hoogerbrugge, N.; Olah, E.; Vasen, H.F.A.; Asperen, C.J. van & Devilee, P. (2019), Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families, Journal of Medical Genetics 56(9).
- Meulemans L, Mesman R, Caputo SM, Krieger S, Guillaud-Bataille M, Caux-Moncoutier V, Leone M, Boutry-Kryza N, Sokolowska J, Tubeuf H, Soukarieh O, Revillion F, Delnatte C, Bonnet-Dorion F, Guibert V, Rousselet F, Bourdon V, Lizard S, Vilquin P, Grout C, Drouet A, Calleja FMGR, Golmard L, Vrieling H, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Vreeswijk M, Martins A & Gaildrat P (2019), Skipping nonsense to maintain function: the paradigm of BRCA2 exon 12, European Journal of Human Genetics 27: 1132-1132.
- Kopper, O.; Witte, C.J. de; Lohmussaar, K.; Valle-Inclan, J.E.; Hami, N.; Kester, L.; Balgobind, A.V.; Korving, J.; Proost, N.; Begthel, H.; Wijk, L.M. van; Revilla, S.A.; Theeuwsen, R.; Ven, M. van de; Roosmalen, M.J. van; Ponsioen, B.; Ho, V.W.H.; Neel, B.G.; Bosse, T.; Gaarenstroom, K.N.; Vrieling, H.; Vreeswijk, M.P.G.; Diest, P.J. van; Witteveen, P.O.; Jonges, T.; Bos, J.L.; Oudenaarden, A. van; Zweemer, R.P.; Snippert, H.J.G.; Kloosterman, W.P. & Clevers, H. (2019), An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity, Nature Medicine 25(5): 838-+.
- Groot, S. de; Lugtenberg, R.T.; Welters, M.J.; Ehsan, I.; Vreeswijk, M.P.; Smit, V.T.; Graaf, H. de; Heijns, J.B.; Portielje, J.E.; Wouw, A.J. van de; Imholz, A.L.; Kessels, L.W.; Vrijaldenhoven, S.; Baars, A.; Kranenbarg, E.M.K.; Duijm-de Carpentier, M.; Leeuwen-Stok, E. van; Putter, H.; Longo, V.D.; Hoeven, J.J. van der; Nortier, J.W.; Pijl, H. & Kroep, J.R. (2019), DIetary REstriction as an adjunct to neoadjuvant ChemoTherapy for HER2-negative breast cancer: Final results from the DIRECT trial (BOOG 2013-04), Cancer Research 79(4).
- Lakeman, I.M.M.; Hilbers, F.S.; Rodriguez-Girondo, M.; Lee, A.; Vreeswijk, M.P.G.; Hollestelle, A.; Seynaeve, C.; Meijers-Heijboer, H.; Oosterwijk, J.C.; Hoogerbrugge, N.; Olah, E.; Vasen, H.F.A.; Asperen, C.J. van & Devilee, P. (2019), Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families, Journal of Medical Genetics 56(9): 581-589.
- Cline, M.S.; Liao, R.G.; Parsons, M.T.; Paten, B.; Alquaddoomi, F.; Antoniou, A.; Baxter, S.; Brody, L.; Cook-Deegan, R.; Coffin, A.; Couch, F.J.; Craft, B.; Currie, R.; Dlott, C.C.; Dolman, L.; Dunnen, J.T. den; Dyke, S.O.M.; Domchek, S.M.; Easton, D.; Fischmann, Z.; Foulkes, W.D.; Garber, J.; Goldgar, D.; Goldman, M.J.; Goodhand, P.; Harrison, S.; Haussler, D.; Kato, K.; Knoppers, B.; Markello, C.; Nussbaum, R.; Offit, K.; Plon, S.E.; Rashbass, J.; Rehm, H.L.; Robson, M.; Rubinstein, W.S.; Stoppa-Lyonnet, D.; Tavtigian, S.; Thorogood, A.; Zhang, C.; Zimmermann, M.; Burn, J.; Chanock, S.; Ratsch, G.; Spurdle, A.B.; Andreoletti, G.; Baker, D.; Brenner, S.; Brush, M.; Caputo, S.; Castera, L.; Cunningham, F.; Hoya, M. de la; Diekhans, M.; Dolinsky, J.; Dwight, S.; Eccles, D.; Feng, B.; Fiume, M.; Flicek, P.; Gaudet, P.; Garcia, E.G.; Haendel, M.; Haeussler, M.; Hahnen, E.; Houdayer, C.; Hunt, S.; James, P.; Lebo, M.; Lee, J.; Lerner-Ellis, J.; Lin, M.; Lincoln, S.; Malheiro, A.; Mesenkamp, A.; Monteiro, A.; Natzijl-Visser, E.; Ngeow, J.; North, K.; Parkinson, H.; Paschall, J.; Patrinos, G.; Phimister, B.; Radice, P.; Rainville, I.; Rasmussen, M.; Riley, G.; Rouleau, E.; Schmutzler, R.; Shefchek, K.; Sofia, H.; Southey, M.; Stuart, J.; Thomas, J.; Toland, A.; Truty, R.; Turn-Bull, C.; Vaur, D.; Vreeswijk, M.P.G.; Walker, L.; Walsh, M.; Wappenschmidt, B.; Weitzel, J.; Wright, M.; Zalunin, V.; Zaranek, A.; Zerbino, D.; Zhou, A.; Zhou, J.; Zook, J.; Paten, B.; Goldgar, D.; Tavtigian, S. & BRCA Challenge Authors (2018), BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2, PLoS Genetics 14(12).
- Moghadasi, S.; Meeks, H.D.; Vreeswijk, M.P.G.; Janssen, L.A.M.; Borg, A.; Ehrencrona, H.; Paulsson-Karlsson, Y.; Wappenschmidt, B.; Engel, C.; Gehrig, A.; Arnold, N.; Hansen, T.V.; Thomassen, M.; Jensen, U.B.; Kruse, T.A.; Ejlertsen, B.; Gerdes, A.M.; Pedersen, I.S.; Caputo, S.M.; Couch, F.; Hallberg, E.J.; Ouweland, A.M.W. van den; Collee, M.J.; Teugels, E.; Adank, M.A.; Luijt, R.B. van der; Mensenkamp, A.R.; Oosterwijk, J.C.; Blok, M.J.; Janin, N.; Claes, K.B.M.; Tucker, K.; Viassolo, V.; Toland, A.E.; Eccles, D.E.; Devilee, P.; Asperen, C.J. van; Spurdle, A.B.; Goldgar, D.E. & Garcia, E.G. (2018), The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium, Journal of Medical Genetics 55(1): 15-20.
- Jonge, M.M. de; Ruano, D.; Eijk, R. van; Stoep, N. van der; Nielsen, M.; Wijnen, J.T.; Haar, N.T. ter; Baalbergen, A.; Bos, M.E.M.M.; Kagie, M.J.; Vreeswijk, M.P.G.; Gaarenstroom, K.N.; Kroep, J.R.; Smit, V.T.H.B.M.; Bosse, T.; Wezel, T. van & Asperen, C.J. van (2018), Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue, Journal of Molecular Diagnostics 20(5): 600-611.
- Jonge, M.M. de; Mooyaart, A.L.; Vreeswijk, M.P.G.; Kroon, C.D. de; Wezel, T. van; Asperen, C.J. van; Smit, V.T.H.B.M.; Dekkers, O.M. & Bosse, T. (2017), Linking uterine serous carcinoma to BRCA1/2-associated cancer syndrome: A meta-analysis and case report, European Journal of Cancer 72: 215-225.
- Jonge, M. de; Auguste, A.; Schouten, P.; Kroon, C. de; Meijers, M.; Haar, N. ter; Eendenburg, J. van; Smit, V.; Leary, A.; Rouleau, E.; Vreeswijk, M. & Bosse, T. (2017), FREQUENT HOMOLOGOUS RECOMBINATION DEFICIENCY IN HIGH-GRADE ENDOMETRIAL CANCER PROVIDES OPPORTUNITIES FOR NOVEL THERAPEUTIC STRATEGIES., International Journal of Gynecological Cancer 27: 191-191.
- Moghadasi, S.; Meeks, H.D.; Vreeswijk, M.P.G.; Janssen, L.A.M.; Borg, A.; Ehrencrona, H.; Paulsson-Karlsson, Y.; Wappenschmidt, B.; Engel, C.; Gehrig, A.; Arnold, N.; Hansen, T.V.; Thomassen, M.; Jensen, U.B.; Kruse, T.A.; Ejlertsen, B.; Gerdes, A.M.; Pedersen, I.S.; Caputo, S.M.; Couch, F.; Hallberg, E.J.; Ouweland, A.M.W. van den; Collee, M.J.; Teugels, E.; Adank, M.A.; Luijt, R.B. van der; Mensenkamp, A.R.; Oosterwijk, J.C.; Blok, M.J.; Janin, N.; Claes, K.B.M.; Tucker, K.; Viassolo, V.; Toland, A.E.; Eccles, D.E.; Devilee, P.; Asperen, C.J. van; Spurdle, A.B.; Goldgar, D.E. & Garcia, E.G. (2017), The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium., Journal of Medical Genetics.
- Shimelis, H.; Mesman, R.L.S.; Nicolai, C. von; Ehlen, A.; Guidugli, L.; Martin, C.; Calleja, F.M.G.R.; Meeks, H.; Hallberg, E.; Hinton, J.; Lilyquist, J.; Hu, C.L.; Aalfs, C.M.; Aittomaki, K.; Andrulis, I.; Anton-Culver, H.; Arndt, V.; Beckmann, M.W.; Benitez, J.; Bogdanova, N.V.; Bojesen, S.E.; Bolla, M.K.; Borresen-Dale, A.L.; Brauch, H.; Brennan, P.; Brenner, H.; Broeks, A.; Brouwers, B.; Bruning, T.; Burwinkel, B.; Chang-Claude, J.; Chenevix-Trench, G.; Cheng, C.Y.; Choi, J.Y.; Collee, J.M.; Cox, A.; Cross, S.S.; Czene, K.; Darabi, H.; Dennis, J.; Dork, T.; Dos-Santos-Silva, I.; Dunning, A.M.; Fasching, P.A.; Figueroa, J.; Flyger, H.; Garcia-Closas, M.; Giles, G.G.; Glendon, G.; Guenel, P.; Haiman, C.A.; Hall, P.; Hamann, U.; Hartman, M.; Hogervorst, F.B.; Hollestelle, A.; Hopper, J.L.; Ito, H.; Jakubowska, A.; Kang, D.; Kosma, V.M.; Kristensen, V.; Lai, K.N.; Lambrechts, D.; Marchand, L. le; Li, J.M.; Lindblom, A.; Lophatananon, A.; Lubinski, J.; Machackova, E.; Mannermaa, A.; Margolin, S.; Marme, F.; Matsuo, K.; Miao, H.; Michailidou, K.; Milne, R.L.; Muir, K.; Neuhausen, S.L.; Nevanlinna, H.; Olson, J.E.; Olswold, C.; Oosterwijk, J.J.C.; Osorio, A.; Peterlongo, P.; Peto, J.; Pharoah, P.D.P.; Pylkas, K.; Radice, P.; Rashid, M.U.; Rhenius, V.; Rudolph, A.; Sangrajrang, S.; Sawyer, E.J.; Schmidt, M.K.; Schoemaker, M.J.; Seynaeve, C.; Shah, M.; Shen, C.Y.; Shrubsole, M.; Shu, X.O.; Slager, S.; Southey, M.C.; Stram, D.O.; Swerdlow, A.; Teo, S.H.; Tomlinson, I.; Torres, D.; Truong, T.; Asperen, C.J. van; Kolk, L.E. van der; Wang, Q.; Winqvist, R.; Wu, A.H.; Yu, J.C.; Zheng, W.; Zheng, Y.; Leary, J.; Walker, L.; Foretova, L.; Fostira, F.; Claes, K.B.M.; Varesco, L.; Moghadasi, S.; Easton, D.F.; Spurdle, A.; Devilee, P.; Vrieling, H.; Monteiro, A.N.A.; Goldgar, D.E.; Carreira, A.; Vreeswijk, M.P.G.; Couch, F.J.; KConFab AOCS Investigators & NBCS Collaborators (2017), BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer., Cancer Research.
- Shimelis, H.; Mesman, R.L.S.; Nicolai, C. von; Ehlen, A.; Guidugli, L.; Martin, C.; Calleja, F.M.G.R.; Meeks, H.; Hallberg, E.; Hinton, J.; Lilyquist, J.; Hu, C.L.; Aalfs, C.M.; Aittomaki, K.; Andrulis, I.; Anton-Culver, H.; Arndt, V.; Beckmann, M.W.; Benitez, J.; Bogdanova, N.V.; Bojesen, S.E.; Bolla, M.K.; Borresen-Dale, A.L.; Brauch, H.; Brennan, P.; Brenner, H.; Broeks, A.; Brouwers, B.; Bruning, T.; Burwinkel, B.; Chang-Claude, J.; Chenevix-Trench, G.; Cheng, C.Y.; Choi, J.Y.; Collee, J.M.; Cox, A.; Cross, S.S.; Czene, K.; Darabi, H.; Dennis, J.; Dork, T.; Dos-Santos-Silva, I.; Dunning, A.M.; Fasching, P.A.; Figueroa, J.; Flyger, H.; Garcia-Closas, M.; Giles, G.G.; Glendon, G.; Guenel, P.; Haiman, C.A.; Hall, P.; Hamann, U.; Hartman, M.; Hogervorst, F.B.; Hollestelle, A.; Hopper, J.L.; Ito, H.; Jakubowska, A.; Kang, D.; Kosma, V.M.; Kristensen, V.; Lai, K.N.; Lambrechts, D.; Marchand, L. le; Li, J.M.; Lindblom, A.; Lophatananon, A.; Lubinski, J.; Machackova, E.; Mannermaa, A.; Margolin, S.; Marme, F.; Matsuo, K.; Miao, H.; Michailidou, K.; Milne, R.L.; Muir, K.; Neuhausen, S.L.; Nevanlinna, H.; Olson, J.E.; Olswold, C.; Oosterwijk, J.J.C.; Osorio, A.; Peterlongo, P.; Peto, J.; Pharoah, P.D.P.; Pylkas, K.; Radice, P.; Rashid, M.U.; Rhenius, V.; Rudolph, A.; Sangrajrang, S.; Sawyer, E.J.; Schmidt, M.K.; Schoemaker, M.J.; Seynaeve, C.; Shah, M.; Shen, C.Y.; Shrubsole, M.; Shu, X.O.; Slager, S.; Southey, M.C.; Stram, D.O.; Swerdlow, A.; Teo, S.H.; Tomlinson, I.; Torres, D.; Truong, T.; Asperen, C.J. van; Kolk, L.E. van der; Wang, Q.; Winqvist, R.; Wu, A.H.; Yu, J.C.; Zheng, W.; Zheng, Y.; Leary, J.; Walker, L.; Foretova, L.; Fostira, F.; Claes, K.B.M.; Varesco, L.; Moghadasi, S.; Easton, D.F.; Spurdle, A.; Devilee, P.; Vrieling, H.; Monteiro, A.N.A.; Goldgar, D.E.; Carreira, A.; Vreeswijk, M.P.G.; Couch, F.J.; KConFab AOCS Investigators & NBCS Collaborators (2017), BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer, Cancer Research 77(11): 2789-2799.
- Moghadasi S., Janssen L.A.M., Bouwman P., Nederlof P.M., Kets C.M., Mensenkamp A.R., Ausems M.G., van der Luijt R.B., Aalfs C.M., van de Kolk L.E., Hoogervorst F.B.L., Adank M.A., Gille J.J.P., Gomez Garcia E.B., Blok M.J., Oosterwijk J.C., van der Hout A.H., Smit V.T.H.B.M., van Eijk R., Vink G.R., Wijnen J.T., Devilee P., Vreeswijk M.P.G. & van Asperen C.J. (2017), Clinical significance of the most common BRCA1 variants in the Netherlands, a validation for the cisplatin cytotoxicity assay, PLoS ONE.
- Jonge, M. de; Auguste, A.; Schouten, P.; Kroon, C. de; Meijers, M.; Haar, N. ter; Eendenburg, J. van; Smit, V.; Leary, A.; Rouleau, E.; Vreeswijk, M. & Bosse, T. (2017), FREQUENT HOMOLOGOUS RECOMBINATION DEFICIENCY IN HIGH-GRADE ENDOMETRIAL CANCER PROVIDES OPPORTUNITIES FOR NOVEL THERAPEUTIC STRATEGIES., International Journal of Gynecological Cancer 27: 1075-1075.
- Moghadasi, S.; Grundeken, V.; Janssen, L.A.M.; Dijkstra, N.H.; Rodriguez-Girondo, M.; Zelst-Stams, W.A.G. van; Oosterwijk, J.C.; Ausems, M.G.E.M.; Oldenburg, R.A.; Adank, M.A.; Blom, E.W.; Ruijs, M.W.G.; Os, T.A.M. van; Deurzen, C.H.M. van; Martens, J.W.M.; Schroder, C.P.; Wijnen, J.T.; Vreeswijk, M.P.G. & Asperen, C.J. van (2017), Performance of BRCA1/2 mutation prediction models in male breast cancer patients., Clinical Genetics.
- Moghadasi, S.; Eccles, D.M.; Devilee, P.; Vreeswijk, M.P.G. & Asperen, C.J. van (2016), Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes, Human Mutation 37(4): 331-336.
- Hoya, M. de la; Soukarieh, O.; Lopez-Perolio, I.; Vega, A.; Walker, L.C.; Ierland, Y. van; Baralle, D.; Santamarina, M.; Lattimore, V.; Wijnen, J.; Whiley, P.; Blanco, A.; Raponi, M.; Hauke, J.; Wappenschmidt, B.; Becker, A.; Hansen, T.V.O.; Behar, R.; Niederacher, D.; Arnold, N.; Dworniczak, B.; Steinemann, D.; Faust, U.; Rubinstein, W.; Hulick, P.J.; Houdayer, C.; Caputo, S.M.; Castera, L.; Pesaran, T.; Chao, E.; Brewer, C.; Southey, M.C.; Asperen, C.J. van; Singer, C.F.; Sullivan, J.; Poplawski, N.; Mai, P.; Peto, J.; Johnson, N.; Burwinkel, B.; Surowy, H.; Bojesen, S.E.; Flyger, H.; Lindblom, A.; Margolin, S.; Chang-Claude, J.; Rudolph, A.; Radice, P.; Galastri, L.; Olson, J.E.; Hallberg, E.; Giles, G.; Milne, R.L.; Andrulis, I.L.; Glendon, G.; Hall, P.; Czene, K.; Blows, F.; Shah, M.; Wang, Q.; Dennis, J.; Michailidou, K.; McGuffog, L.; Bolla, M.K.; Antoniou, A.C.; Easton, D.F.; Couch, F.J.; Tavtigian, S.; Vreeswijk, M.P.; Parsons, M.; Meeks, H.D.; Martins, A.; Goldgar, D.E.; Spurdle, A.B. & KConFaB Investigators (2016), Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms, Human Molecular Genetics 25(11): 2256-2268.
- Naipal, K.A.T.; Verkaik, N.S.; Sanchez, H.; Deurzen, C.H.M. van; Bakker, M.A. den; Hoeijmakers, J.H.J.; Kanaar, R.; Vreeswijk, M.P.G.; Jager, A. & Gent, D.C. van (2016), Tumor slice culture system to assess drug response of primary breast cancer, BMC Cancer 16.
- Jhuraney, A.; Velkova, A.; Johnson, R.C.; Kessing, B.; Carvalho, R.S.; Whiley, P.; Spurdle, A.B.; Vreeswijk, M.P.G.; Caputo, S.M.; Millot, G.A.; Vega, A.; Coquelle, N.; Galli, A.; Eccles, D.; Blok, M.J.; Pal, T.; Luijt, R.B. van der; Pena, M.S.; Neuhausen, S.L.; Donenberg, T.; Machackova, E.; Thomas, S.; Vallee, M.; Couch, F.J.; Tavtigian, S.V.; Glover, J.N.M.; Carvalho, M.A.; Brody, L.C.; Sharan, S.K.; Monteiro, A.N. & ENIGMA Evidence-Based Network (2015), BRCA1 Circos: a visualisation resource for functional analysis of missense variants, Journal of Medical Genetics 52(4): 224-230.
- Peterlongo, P.; Chang-Claude, J.; Moysich, K.B.; Rudolph, A.; Schmutzler, R.K.; Simard, J.; Soucy, P.; Eeles, R.A.; Easton, D.F.; Hamann, U.; Wilkening, S.; Chen, B.W.; Rookus, M.A.; Schmidt, M.; Baan, F.H. van der; Spurdle, A.B.; Walker, L.C.; Lose, F.; Maia, A.T.; Montagna, M.; Matricardi, L.; Lubinski, J.; Jakubowska, A.; Garcia, E.B.G.; Olopade, O.I.; Nussbaum, R.L.; Nathanson, K.L.; Domchek, S.M.; Rebbeck, T.R.; Arun, B.K.; Karlan, B.Y.; Orsulic, S.; Lester, J.; Chung, W.K.; Miron, A.; Southey, M.C.; Goldgar, D.E.; Buys, S.S.; Janavicius, R.; Dorfling, C.M.; Rensburg, E.J. van; Ding, Y.C.; Neuhausen, S.L.; Hansen, T.V.O.; Gerdes, A.M.; Ejlertsen, B.; Jonson, L.; Osorio, A.; Martinez-Bouzas, C.; Benitez, J.; Conway, E.E.; Blazer, K.R.; Weitzel, J.N.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Barile, M.; Ficarazzi, F.; Mariette, F.; Fortuzzi, S.; Viel, A.; Giannini, G.; Papi, L.; Martayan, A.; Tibiletti, M.G.; Radice, P.; Vratimos, A.; Fostira, F.; Garber, J.E.; Donaldson, A.; Brewer, C.; Foo, C.; Evans, D.G.R.; Frost, D.; Eccles, D.; Brady, A.; Cook, J.; Tischkowitz, M.; Adlard, J.; Barwell, J.; Walker, L.; Izatt, L.; Side, L.E.; Kennedy, M.J.; Rogers, M.T.; Porteous, M.E.; Morrison, P.J.; Platte, R.; Davidson, R.; Hodgson, S.V.; Ellis, S.; Cole, T.; Godwin, A.K.; Claes, K.; Maerken, T. van; Meindl, A.; Gehrig, A.; Sutter, C.; Engel, C.; Niederacher, D.; Steinemann, D.; Plendl, H.; Kast, K.; Rhiem, K.; Ditsch, N.; Arnold, N.; Varon-Mateeva, R.; Wappenschmidt, B.; Wang-Gohrke, S.; Bressac-de Paillerets, B.; Buecher, B.; Delnatte, C.; Houdayer, C.; Stoppa-Lyonnet, D.; Damiola, F.; Coupier, I.; Barjhoux, L.; Venat-Bouvet, L.; Golmard, L.; Boutry-Kryza, N.; Sinilnikova, O.M.; Caron, O.; Pujol, P.; Mazoyer, S.; Belotti, M.; Piedmonte, M.; Friedlander, M.L.; Rodriguez, G.C.; Copeland, L.J.; Hoya, M. de la; Segura, P.P.; Nevanlinna, H.; Aittomaki, K.; Os, T.A.M. van; Meijers-Heijboer, H.E.J.; Hout, A.H. van der; Vreeswijk, M.P.G.; Hoogerbrugge, N.; Ausems, M.G.E.M.; Doorn, H.C. van; Collee, J.M.; Olah, E.; Diez, O.; Blanco, I.; Lazaro, C.; Brunet, J.; Feliubadalo, L.; Cybulski, C.; Gronwald, J.; Durda, K.; Jaworska-Bieniek, K.; Sukiennicki, G.; Arason, A.; Chiquette, J.; Teixeira, M.R.; Olswold, C.; Couch, F.J.; Lindor, N.M.; Wang, X.S.; Szabo, C.I.; Offit, K.; Corines, M.; Jacobs, L.; Robson, M.E.; Zhang, L.Y.; Joseph, V.; Berger, A.; Singer, C.F.; Rappaport, C.; Kaulich, D.G.; Pfeiler, G.; Tea, M.K.M.; Phelan, C.M.; Greene, M.H.; Mai, P.L.; Rennert, G.; Mulligan, A.M.; Glendon, G.; Tchatchou, S.; Andrulis, I.L.; Toland, A.E.; Bojesen, A.; Pedersen, I.S.; Thomassen, M.; Jensen, U.B.; Laitman, Y.; Rantala, J.; Wachenfeldt, A. von; Ehrencrona, H.; Askmalm, M.S.; Borg, A.; Kuchenbaecker, K.B.; McGuffog, L.; Barrowdale, D.; Healey, S.; Lee, A.; Pharoah, P.D.P.; Chenevix-Trench, G.; Antoniou, A.C.; Friedman, E.; EMBRACE; GEMO Study Collaborators; HEBON & KConFab Investigators (2015), Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers, Cancer Epidemiology, Biomarkers and Prevention 24(1): 308-316.
- Groot, S. de; Vreeswijk, M.P.G.; Welters, M.J.P.; Gravesteijn, G.; Boei, J.J.W.A.; Jochems, A.; Houtsma, D.; Putter, H.; Hoeven, J.J.M. van der; Nortier, J.W.R.; Pijl, H. & Kroep, J.R. (2015), The effects of short-term fasting on tolerance to (neo) adjuvant chemotherapy in HER2-negative breast cancer patients: a randomized pilot study, BMC Cancer 15.
- Hendriks, G.; Morolli, B.; Calleja, F.M.G.R.; Plomp, A.; Mesman, R.L.S.; Meijers, M.; Sharan, S.K.; Vreeswijk, M.P.G. & Vrieling, H. (2014), An Efficient Pipeline for the Generation and Functional Analysis of Human BRCA2 Variants of Uncertain Significance, Human Mutation 35(11): 1382-1391.
- Naipal, K.A.T.; Verkaik, N.S.; Ameziane, N.; Deurzen, C.H.M. van; Brugge, P. ter; Meijers, M.; Sieuwerts, A.M.; Martens, J.W.; O'Connor, M.J.; Vrieling, H.; Hoeijmakers, J.H.J.; Jonkers, J.; Kanaar, R.; Winter, J.P. de; Vreeswijk, M.P.; Jager, A. & Gent, D.C. van (2014), Functional Ex Vivo Assay to Select Homologous Recombination-Deficient Breast Tumors for PARP Inhibitor Treatment, Clinical Cancer Research 20(18): 4816-4826.
- Naipal, K.A.T.; Verkaik, N.S.; Brugge, P. ter; Ameziane, N.; Deurzen, C.H.M. van; Martens, J.W.; Winter, J.P. de; Jonkers, J.; Vreeswijk, M.P.; Jager, A.; Hoeijmakers, J.; Kanaar, R. & Gent, D.C. van (2014), Exploiting DNA repair defects in breast cancer, Cancer Research 74(19).
- Guidugli, L.; Carreira, A.; Caputo, S.M.; Ehlen, A.; Galli, A.; Monteiro, A.N.A.; Neuhausen, S.L.; Hansen, T.V.O.; Couch, F.J.; Vreeswijk, M.P.G. & ENIGMA Consortium (2014), Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2, Human Mutation 35(2): 151-164.
- Hilbers, F.S.M.; Vreeswijk, M.P.G.; Asperen, C.J. van & Devilee, P. (2013), The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?, Clinical Genetics 84(5): 407-414.
- Moghadasi, S.; Hofland, N.; Wouts, J.N.; Hogervorst, F.B.L.; Wijnen, J.T.; Vreeswijk, M.P.G. & Asperen, C.J. van (2013), Variants of Uncertain Significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling., Journal of Medical Genetics 50(2): 74-9.
- Kirchhoff, T.; Gaudet, M.M.; Antoniou, A.C.; McGuffog, L.; Humphreys, M.K.; Dunning, A.M.; Bojesen, S.E.; Nordestgaard, B.G.; Flyger, H.; Kang, D.; Yoo, K.Y.; Noh, D.Y.; Ahn, S.H.; Dork, T.; Schurmann, P.; Karstens, J.H.; Hillemanns, P.; Couch, F.J.; Olson, J.; Vachon, C.; Wang, X.S.; Cox, A.; Brock, I.; Elliott, G.; Reed, M.W.R.; Burwinkel, B.; Meindl, A.; Brauch, H.; Hamann, U.; Ko, Y.D.; Broeks, A.; Schmidt, M.K.; Veer, L.J. van 't; Braaf, L.M.; Johnson, N.; Fletcher, O.; Gibson, L.; Peto, J.; Turnbull, C.; Seal, S.; Renwick, A.; Rahman, N.; Wu, P.E.; Yu, J.C.; Hsiung, C.N.; Shen, C.Y.; Southey, M.C.; Hopper, J.L.; Hammet, F.; Dorpe, T. van; Dieudonne, A.S.; Hatse, S.; Lambrechts, D.; Andrulis, I.L.; Bogdanova, N.; Antonenkova, N.; Rogov, J.I.; Prokofieva, D.; Bermisheva, M.; Khusnutdinova, E.; Asperen, C.J. van; Tollenaar, R.A.E.M.; Hooning, M.J.; Devilee, P.; Margolin, S.; Lindblom, A.; Milne, R.L.; Arias, J.I.; Zamora, M.P.; Benitez, J.; Severi, G.; Baglietto, L.; Giles, G.G.; Spurdle, A.B.; Beesley, J.; Chen, X.Q.; Holland, H.; Healey, S.; Wang-Gohrke, S.; Chang-Claude, J.; Mannermaa, A.; Kosma, V.M.; Kauppinen, J.; Kataja, V.; Agnarsson, B.A.; Caligo, M.A.; Godwin, A.K.; Nevanlinna, H.; Heikkinen, T.; Fredericksen, Z.; Lindor, N.; Nathanson, K.L.; Domchek, S.M.; Loman, N.; Karlsson, P.; Askmalm, M.S.; Melin, B.; Wachenfeldt, A. von; Hogervorst, F.B.L.; Verheus, M.; Rookus, M.A.; Seynaeve, C.; Oldenburg, R.A.; Ligtenberg, M.J.; Ausems, M.G.E.M.; Aalfs, C.M.; Gille, H.J.P.; Wijnen, J.T.; Garcia, E.B.G.; Peock, S.; Cook, M.; Oliver, C.T.; Frost, D.; Luccarini, C.; Pichert, G.; Davidson, R.; Chu, C.; Eccles, D.; Ong, K.R.; Cook, J.; Douglas, F.; Hodgson, S.; Evans, D.G.; Eeles, R.; Gold, B.; Pharoah, P.D.P.; Offit, K.; Chenevix-Trench, G.; Easton, D.F.; GENICA Network; kConFab; AOCS Study Grp; SWE-BRCA; HEBON; EMBRACE & BCAC-CIMBA (2012), Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2, PLoS ONE 7(6): -.
- Ramus, S.J.; Antoniou, A.C.; Kuchenbaecker, K.B.; Soucy, P.; Beesley, J.; Chen, X.; McGuffog, L.; Sinilnikova, O.M.; Healey, S.; Barrowdale, D.; Lee, A.; Thomassen, M.; Gerdes, A.M.; Kruse, T.A.; Jensen, U.B.; Skytte, A.B.; Caligo, M.A.; Liljegren, A.; Lindblom, A.; Olsson, H.; Kristoffersson, U.; Stenmark-Askmalm, M.; Melin, B.; Domchek, S.M.; Nathanson, K.L.; Rebbeck, T.R.; Jakubowska, A.; Lubinski, J.; Jaworska, K.; Durda, K.; Zlowocka, E.; Gronwald, J.; Huzarski, T.; Byrski, T.; Cybulski, C.; Toloczko-Grabarek, A.; Osorio, A.; Benitez, J.; Duran, M.; Tejada, M.I.; Hamann, U.; Rookus, M.; Leeuwen, F.E. van; Aalfs, C.M.; Meijers-Heijboer, H.E.J.; Asperen, C.J. van; Roozendaal, K.E.P. van; Hoogerbrugge, N.; Collee, J.M.; Kriege, M.; Luijt, R.B. van der; Peock, S.; Frost, D.; Ellis, S.D.; Platte, R.; Fineberg, E.; Evans, D.G.; Lalloo, F.; Jacobs, C.; Eeles, R.; Adlard, J.; Davidson, R.; Eccles, D.; Cole, T.; Cook, J.; Paterson, J.; Douglas, F.; Brewer, C.; Hodgson, S.; Morrison, P.J.; Walker, L.; Porteous, M.E.; Kennedy, M.J.; Pathak, H.; Godwin, A.K.; Stoppa-Lyonnet, D.; Caux-Moncoutier, V.; Pauw, A. de; Gauthier-Villars, M.; Mazoyer, S.; Leone, M.; Calender, A.; Lasset, C.; Bonadona, V.; Hardouin, A.; Berthet, P.; Bignon, Y.J.; Uhrhammer, N.; Faivre, L.; Loustalot, C.; Buys, S.; Daly, M.; Miron, A.; Terry, M.B.; Chung, W.K.; John, E.M.; Southey, M.; Goldgar, D.; Singer, C.F.; Tea, M.K.; Pfeiler, G.; Fink-Retter, A.; Hansen, T.V.O.; Ejlertsen, B.; Johannsson, O.T.; Offit, K.; Kirchhoff, T.; Gaudet, M.M.; Vijai, J.; Robson, M.; Piedmonte, M.; Phillips, K.A.; , L. van le; Hoffman, J.S.; Toland, A.E.; Montagna, M.; Tognazzo, S.; Imyanitov, E.; Isaacs, C.; Janavicius, R.; Lazaro, C.; Blanco, I.; Tornero, E.; Navarro, M.; Moysich, K.B.; Karlan, B.Y.; Gross, J.; Olah, E.; Vaszko, T.; Teo, S.H.; Ganz, P.A.; Beattie, M.S.; Dorfling, C.M.; Rensburg, E.J. van; Diez, O.; Kwong, A.; Schmutzler, R.K.; Wappenschmidt, B.; Engel, C.; Meindl, A.; Ditsch, N.; Arnold, N.; Heidemann, S.; Niederacher, D.; Preisler-Adams, S.; Gadzicki, D.; Varon-Mateeva, R.; Deissler, H.; Gehrig, A.; Sutter, C.; Kast, K.; Fiebig, B.; Schaefer, D.; Caldes, T.; Hoya, M. de la; Nevanlinna, H.; Aittomaki, K.; Plante, M.; Spurdle, A.B.; Neuhausen, S.L.; Ding, Y.C.; Wang, X.S.; Lindor, N.; Fredericksen, Z.; Pankratz, V.S.; Peterlongo, P.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Bonanni, B.; Bernard, L.; Dolcetti, R.; Papi, L.; Ottini, L.; Radice, P.; Greene, M.H.; Mai, P.L.; Andrulis, I.L.; Glendon, G.; Ozcelik, H.; Pharoah, P.D.P.; Gayther, S.A.; Simard, J.; Easton, D.F.; Couch, F.J.; Chenevix-Trench, G.; SWE-BRCA; HEBON; EMBRACE; GEMO; KConFab; Ocgn & Consortium Investigators Modifiers (2012), Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers., Human Mutation 33(4): 690-702.
- Mavaddat, N.; Barrowdale, D.; Andrulis, I.L.; Domchek, S.M.; Eccles, D.; Nevanlinna, H.; Ramus, S.J.; Spurdle, A.; Robson, M.; Sherman, M.; Mulligan, A.M.; Couch, F.J.; Engel, C.; McGuffog, L.; Healey, S.; Sinilnikova, O.M.; Southey, M.C.; Terry, M.B.; Goldgar, D.; O'Malley, F.; John, E.M.; Janavicius, R.; Tihomirova, L.; Hansen, T.V.O.; Nielsen, F.C.; Osorio, A.; Stavropoulou, A.; Benitez, J.; Manoukian, S.; Peissel, B.; Barile, M.; Volorio, S.; Pasini, B.; Dolcetti, R.; Putignano, A.L.; Ottini, L.; Radice, P.; Hamann, U.; Rashid, M.U.; Hogervorst, F.B.; Kriege, M.; Luijt, R.B. van der; Peock, S.; Frost, D.; Evans, D.G.; Brewer, C.; Walker, L.; Rogers, M.T.; Side, L.E.; Houghton, C.; Weaver, J.; Godwin, A.K.; Schmutzler, R.K.; Wappenschmidt, B.; Meindl, A.; Kast, K.; Arnold, N.; Niederacher, D.; Sutter, C.; Deissler, H.; Gadzicki, D.; Preisler-Adams, S.; Varon-Mateeva, R.; Schonbuchner, I.; Gevensleben, H.; Stoppa-Lyonnet, D.; Belotti, M.; Barjhoux, L.; Isaacs, C.; Peshkin, B.N.; Caldes, T.; Hoya, M. de la; Canadas, C.; Heikkinen, T.; Heikkila, P.; Aittomaki, K.; Blanco, I.; Lazaro, C.; Brunet, J.; Agnarsson, B.A.; Arason, A.; Barkardottir, R.B.; Dumont, M.; Simard, J.; Montagna, M.; Agata, S.; D'Andrea, E.; Yan, M.; Fox, S.; Rebbeck, T.R.; Rubinstein, W.; Tung, N.; Garber, J.E.; Wang, X.S.; Fredericksen, Z.; Pankratz, V.S.; Lindor, N.M.; Szabo, C.; Offit, K.; Sakr, R.; Gaudet, M.M.; Singer, C.F.; Tea, M.K.; Rappaport, C.; Mai, P.L.; Greene, M.H.; Sokolenko, A.; Imyanitov, E.; Toland, A.E.; Senter, L.; Sweet, K.; Thomassen, M.; Gerdes, A.M.; Kruse, T.; Caligo, M.; Aretini, P.; Rantala, J.; Wachenfeld, A. von; Henriksson, K.; Steele, L.; Neuhausen, S.L.; Nussbaum, R.; Beattie, M.; Odunsi, K.; Sucheston, L.; Gayther, S.A.; Nathanson, K.; Gross, J.; Walsh, C.; Karlan, B.; Chenevix-Trench, G.; Easton, D.F.; Antoniou, A.C.; HEBON; EMBRACE; GEMO Study Collaborators; kConFab Investigators; SWE-BRCA Collaborators & Consortium Investigators Modifiers (2012), Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), Cancer Epidemiology, Biomarkers and Prevention 21(1): 134-147.
- Spurdle, A.B.; Whiley, P.J.; Thompson, B.; Feng, B.J.; Healey, S.; Brown, M.A.; Pettigrew, C.; Asperen, C.J. van; Ausems, M.G.E.M.; Kattentidt-Mouravieva, A.A.; Ouweland, A.M.W. van den; Lindblom, A.; Pigg, M.H.; Schmutzler, R.K.; Engel, C.; Meindl, A.; Caputo, S.; Sinilnikova, O.M.; Lidereau, R.; Couch, F.J.; Guidugli, L.; Hansen, T.V.; Thomassen, M.; Eccles, D.M.; Tucker, K.; Benitez, J.; Domchek, S.M.; Toland, A.E.; Rensburg, E.J. van; Wappenschmidt, B.; Borg, A.; Vreeswijk, M.P.G.; Goldgar, D.E.; KConFab; Dutch Belgium UV Consortium; German Consortium Hereditary; French COVAR Grp Collaborators & ENIGMA Consortium (2012), BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk, Journal of Medical Genetics 49(8): 525-532.
- Jakubowska, A.; Rozkrut, D.; Antoniou, A.; Hamann, U.; Scott, R.J.; McGuffog, L.; Healy, S.; Sinilnikova, O.M.; Rennert, G.; Lejbkowicz, F.; Flugelman, A.; Andrulis, I.L.; Glendon, G.; Ozcelik, H.; Thomassen, M.; Paligo, M.; Aretini, P.; Kantala, J.; Aroer, B.; Wachenfeldt, A. von; Liljegren, A.; Loman, N.; Herbst, K.; Kristoffersson, U.; Rosenquist, R.; Karlsson, P.; Stenmark-Askmalm, M.; Melin, B.; Nathanson, K.L.; Domchek, S.M.; Byrski, T.; Huzarski, T.; Gronwald, J.; Menkiszak, J.; Cybulski, C.; Serrano, P.; Osorio, A.; Cajal, T.R.; Tsitlaidou, M.; Benitez, J.; Gilbert, M.; Rookus, M.; Aalfs, C.M.; Kluijt, I.; Boessenkool-Pape, J.L.; Meijers-Heijboer, H.E.J.; Oosterwijk, J.C.; Asperen, C.J. van; Blok, M.J.; Nelen, M.R.; Ouweland, A.M.W. van den; Seynaeve, C.; Luijt, R.B. van der; Devilee, P.; Easton, D.F.; Peock, S.; Frost, D.; Platte, R.; Ellis, S.D.; Fineberg, E.; Evans, D.G.; Lalloo, F.; Eeles, R.; Jacobs, C.; Adlard, J.; Davidson, R.; Eccles, D.; Cole, T.; Cook, J.; Godwin, A.; Bove, B.; Stoppa-Lyonnet, D.; Caux-Moncoutier, V.; Belotti, M.; Tirapo, C.; Mazoyer, S.; Barjhoux, L.; Boutry-Kryza, N.; Pujol, P.; Coupier, I.; Peyrat, J.P.; Vennin, P.; Muller, D.; Fricker, J.P.; Venat-Bouvet, L.; Johannsson, O.; Isaacs, C.; Schmutzler, R.; Wappenschmidt, B.; Meindl, A.; Arnold, N.; Varon-Mateeva, R.; Niederacher, D.; Sutter, C.; Deissler, H.; Preisler-Adams, S.; Simard, J.; Soucy, P.; Durocher, F.; Chenevix-Trench, G.; Beesley, J.; Chen, X.; Rebbeck, T.; Couch, F.; Wang, X.; Lindor, N.; Fredericksen, Z.; Pankratz, V.S.; Peterlongo, P.; Bonanni, B.; Fortuzzi, S.; Peissel, B.; Szabo, C.; Mai, P.L.; Loud, J.T.; Lubinski, J.; OCGN; SWE BRCA; HEBON; EMBRACE; GEMO Study Collaborators; KConFab & CIMBA (2012), Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study, British Journal of Cancer 106(12): 2016-2024.
- Vreeswijk MP & van der Klift HM (2012), Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders., Methods in Molecular Biology 867: 49-63.
- Millot, G.A.; Carvalho, M.A.; Caputo, S.M.; Vreeswijk, M.P.G.; Brown, M.A.; Webb, M.; Rouleau, E.; Neuhausen, S.L.; Hansen, T.V.O.; Galli, A.; Brandao, R.D.; Blok, M.J.; Velkova, A.; Couch, F.J.; Monteiro, A.N.A. & ENIGMA Consortium Functional Assay (2012), A guide for functional analysis of BRCA1 variants of uncertain significance, Human Mutation 33(11): 1526-1537.
- Osorio, A.; Milne, R.L.; Alonso, R.; Pita, G.; Peterlongo, P.; Teule, A.; Nathanson, K.L.; Domchek, S.M.; Rebbeck, T.; Lasa, A.; Konstantopoulou, I.; Hogervorst, F.B.; Verhoef, S.; Dooren, M.F. van; Jager, A.; Ausems, M.G.E.M.; Aalfs, C.M.; Asperen, C.J. van; Vreeswijk, M.; Waisfisz, Q.; Roozendaal, C.E. van; Ligtenberg, M.J.; Easton, D.F.; Peock, S.; Cook, M.; Oliver, C.T.; Frost, D.; Curzon, B.; Evans, D.G.; Lalloo, F.; Eeles, R.; Izatt, L.; Davidson, R.; Adlard, J.; Eccles, D.; Ong, K.R.; Douglas, F.; Downing, S.; Brewer, C.; Walker, L.; Nevanlinna, H.; Aittomaki, K.; Couch, F.J.; Fredericksen, Z.; Lindor, N.M.; Godwin, A.; Isaacs, C.; Caligo, M.A.; Loman, N.; Jernstrom, H.; Barbany-Bustinza, G.; Liljegren, A.; Ehrencrona, H.; Stenmark-Askmalm, M.; Feliubadalo, L.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Bonanni, B.; Fortuzzi, S.; Johannsson, O.T.; Chenevix-Trench, G.; Chen, X.C.; Beesley, J.; Spurdle, A.B.; Sinilnikova, O.M.; Healey, S.; McGuffog, L.; Antoniou, A.C.; Brunet, J.; Radice, P.; Benitez, J.; HEBON; EMBRACE; SWE-BRCA; kConFab & CIMBA (2011), Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2, British Journal of Cancer 104(8): 1356-1361.
- Antoniou, A.C.; Kartsonaki, C.; Sinilnikova, O.M.; Soucy, P.; McGuffog, L.; Healey, S.; Lee, A.; Peterlongo, P.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Cattaneo, E.; Barile, M.; Pensotti, V.; Pasini, B.; Dolcetti, R.; Giannini, G.; Putignano, A.L.; Varesco, L.; Radice, P.; Mai, P.L.; Greene, M.H.; Andrulis, I.L.; Glendon, G.; Ozcelik, H.; Thomassen, M.; Gerdes, A.M.; Kruse, T.A.; Jensen, U.B.; Cruger, D.G.; Caligo, M.A.; Laitman, Y.; Milgrom, R.; Kaufman, B.; Paluch-Shimon, S.; Friedman, E.; Loman, N.; Harbst, K.; Lindblom, A.; Arver, B.; Ehrencrona, H.; Melin, B.; Nathanson, K.L.; Domchek, S.M.; Rebbeck, T.; Jakubowska, A.; Lubinski, J.; Gronwald, J.; Huzarski, T.; Byrski, T.; Cybulski, C.; Gorski, B.; Osorio, A.; Cajal, T.R.Y.; Fostira, F.; Andres, R.; Benitez, J.; Hamann, U.; Hogervorst, F.B.; Rookus, M.A.; Hooning, M.J.; Nelen, M.R.; Luijt, R.B. van der; Os, T.A.M. van; Asperen, C.J. van; Devilee, P.; Meijers-Heijboer, H.E.J.; Garcia, E.B.G.; Peock, S.; Cook, M.; Frost, D.; Platte, R.; Leyland, J.; Evans, D.G.; Lalloo, F.; Eeles, R.; Izatt, L.; Adlard, J.; Davidson, R.; Eccles, D.; Ong, K.R.; Cook, J.; Douglas, F.; Paterson, J.; Kennedy, M.J.; Miedzybrodzka, Z.; Godwin, A.; Stoppa-Lyonnet, D.; Buecher, B.; Belotti, M.; Tirapo, C.; Mazoyer, S.; Barjhoux, L.; Lasset, C.; Leroux, D.; Faivre, L.; Bronner, M.; Prieur, F.; Nogues, C.; Rouleau, E.; Pujol, P.; Coupier, I.; Frenay, M.; Hopper, J.L.; Daly, M.B.; Terry, M.B.; John, E.M.; Buys, S.S.; Yassin, Y.; Miron, A.; Goldgar, D.; Singer, C.F.; Tea, M.K.; Pfeiler, G.; Dressler, A.C.; Hansen, T.V.; Jonson, L.; Ejlertsen, B.; Barkardottir, R.B.; Kirchhoff, T.; Offit, K.; Piedmonte, M.; Rodriguez, G.; Small, L.; Boggess, J.; Blank, S.; Basil, J.; Azodi, M.; Toland, A.E.; Montagna, M.; Tognazzo, S.; Agata, S.; Imyanitov, E.; Janavicius, R.; Lazaro, C.; Blanco, I.; Pharoah, P.D.P.; Sucheston, L.; Karlan, B.Y.; Walsh, C.S.; Olah, E.; Bozsik, A.; Teo, S.H.; Seldon, J.L.; Beattie, M.S.; Rensburg, E.J. van; Sluiter, M.D.; Diez, O.; Schmutzler, R.K.; Wappenschmidt, B.; Engel, C.; Meindl, A.; Ruehl, I.; Varon-Mateeva, R.; Kast, K.; Deissler, H.; Niederacher, D.; Arnold, N.; Gadzicki, D.; Schonbuchner, I.; Caldes, T.; Hoya, M. de la; Nevanlinna, H.; Aittomaki, K.; Dumont, M.; Chiquette, J.; Tischkowitz, M.; Chen, X.Q.; Beesley, J.; Spurdle, A.B.; Neuhausen, S.L.; Ding, Y.C.; Fredericksen, Z.; Wang, X.; Pankratz, V.S.; Couch, F.; Simard, J.; Easton, D.F.; Chenevix-Trench, G.; SWE-BRCA; HEBON; EMBRACE; CEMO Study Collaborators; Breast Canc Family Registry; kConFab Investigators & CIMBA (2011), Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, Human Molecular Genetics 20(16): 3304-3321.
- Cox, D.G.; Simard, J.; Sinnett, D.; Hamdi, Y.; Soucy, P.; Ouimet, M.; Barjhoux, L.; Verny-Pierre, C.; McGuffog, L.; Healey, S.; Szabo, C.; Greene, M.H.; Mai, P.L.; Andrulis, I.L.; Thomassen, M.; Gerdes, A.M.; Caligo, M.A.; Friedman, E.; Laitman, Y.; Kaufman, B.; Paluch, S.S.; Borg, A.; Karlsson, P.; Askmalm, M.S.; Bustinza, G.B.; Nathanson, K.L.; Domchek, S.M.; Rebbeck, T.R.; Benitez, J.; Hamann, U.; Rookus, M.A.; Ouweland, A.M.W. van den; Ausems, M.G.E.M.; Aalfs, C.M.; Asperen, C.J. van; Devilee, P.; Gille, H.J.J.P.; Peock, S.; Frost, D.; Evans, D.G.; Eeles, R.; Izatt, L.; Adlard, J.; Paterson, J.; Eason, J.; Godwin, A.K.; Remon, M.A.; Moncoutier, V.; Gauthier-Villars, M.; Lasset, C.; Giraud, S.; Hardouin, A.; Berthet, P.; Sobol, H.; Eisinger, F.; Paillerets, B.B. de; Caron, O.; Delnatte, C.; Goldgar, D.; Miron, A.; Ozcelik, H.; Buys, S.; Southey, M.C.; Terry, M.B.; Singer, C.F.; Dressler, A.C.; Tea, M.K.; Hansen, T.V.O.; Johannsson, O.; Piedmonte, M.; Rodriguez, G.C.; Basil, J.B.; Blank, S.; Toland, A.E.; Montagna, M.; Isaacs, C.; Blanco, I.; Gayther, S.A.; Moysich, K.B.; Schmutzler, R.K.; Wappenschmidt, B.; Engel, C.; Meindl, A.; Ditsch, N.; Arnold, N.; Niederacher, D.; Sutter, C.; Gadzicki, D.; Fiebig, B.; Caldes, T.; Laframboise, R.; Nevanlinna, H.; Chen, X.Q.; Beesley, J.; Spurdle, A.B.; Neuhausen, S.L.; Ding, Y.C.; Couch, F.J.; Wang, X.S.; Peterlongo, P.; Manoukian, S.; Bernard, L.; Radice, P.; Easton, D.F.; Chenevix-Trench, G.; Antoniou, A.C.; Stoppa-Lyonnet, D.; Mazoyer, S.; Sinilnikova, O.M.; Ontario Canc Genetics Network; SWE-BRCA Collaborators; HEBON; EMBRACE; GEMO Study Collaborators; Breast Canc Family Registry & Consortium Investigators Modifiers (2011), Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers, Human Molecular Genetics 20(23): 4732-4747.
- , K.M. im; Kirchhoff, T.; Wang, X.S.; Green, T.; Chow, C.Y.; Vijai, J.; Korn, J.; Gaudet, M.M.; Fredericksen, Z.; Pankratz, V.S.; Guiducci, C.; Crenshaw, A.; McGuffog, L.; Kartsonaki, C.; Morrison, J.; Healey, S.; Sinilnikova, O.M.; Mai, P.L.; Greene, M.H.; Piedmonte, M.; Rubinstein, W.S.; Hogervorst, F.B.; Rookus, M.A.; Collee, J.M.; Hoogerbrugge, N.; Asperen, C.J. van; Meijers-Heijboer, H.E.J.; Roozendaal, C.E. van; Caldes, T.; Perez-Segura, P.; Jakubowska, A.; Lubinski, J.; Huzarski, T.; Blecharz, P.; Nevanlinna, H.; Aittomaki, K.; Lazaro, C.; Blanco, I.; Barkardottir, R.B.; Montagna, M.; D'Andrea, E.; Devilee, P.; Olopade, O.I.; Neuhausen, S.L.; Peissel, B.; Bonanni, B.; Peterlongo, P.; Singer, C.F.; Rennert, G.; Lejbkowicz, F.; Andrulis, I.L.; Glendon, G.; Ozcelik, H.; Toland, A.E.; Caligo, M.A.; Beattie, M.S.; Chan, S.; Domchek, S.M.; Nathanson, K.L.; Rebbeck, T.R.; Phelan, C.; Narod, S.; John, E.M.; Hopper, J.L.; Buys, S.S.; Daly, M.B.; Southey, M.C.; Terry, M.B.; Tung, N.; Hansen, T.V.O.; Osorio, A.; Benitez, J.; Duran, M.; Weitzel, J.N.; Garber, J.; Hamann, U.; Peock, S.; Cook, M.; Oliver, C.T.; Frost, D.; Platte, R.; Evans, D.G.; Eeles, R.; Izatt, L.; Paterson, J.; Brewer, C.; Hodgson, S.; Morrison, P.J.; Porteous, M.; Walker, L.; Rogers, M.T.; Side, L.E.; Godwin, A.K.; Schmutzler, R.K.; Wappenschmidt, B.; Laitman, Y.; Meindl, A.; Deissler, H.; Varon-Mateeva, R.; Preisler-Adams, S.; Kast, K.; Venat-Bouvet, L.; Stoppa-Lyonnet, D.; Chenevix-Trench, G.; Easton, D.F.; Klein, R.J.; Daly, M.J.; Friedman, E.; Dean, M.; Clark, A.G.; Altshuler, D.M.; Antoniou, A.C.; Couch, F.J.; Offit, K. & Gold, B. (2011), Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers, Human Genetics 130(5): 685-699.
- Martrat, G.; Maxwell, C.A.; Tominaga, E.; Porta-de-la-Riva, M.; Bonifaci, N.; Gomez-Baldo, L.; Bogliolo, M.; Lazaro, C.; Blanco, I.; Brunet, J.; Aguilar, H.; Fernandez-Rodriguez, J.; Seal, S.; Renwick, A.; Rahman, N.; Kuhl, J.; Neveling, K.; Schindler, D.; Ramirez, M.J.; Castella, M.; Hernandez, G.; Easton, D.F.; Peock, S.; Cook, M.; Oliver, C.T.; Frost, D.; Platte, R.; Evans, D.G.; Lalloo, F.; Eeles, R.; Izatt, L.; Chu, C.; Davidson, R.; Ong, K.R.; Cook, J.; Douglas, F.; Hodgson, S.; Brewer, C.; Morrison, P.J.; Porteous, M.; Peterlongo, P.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Roversi, G.; Barile, M.; Viel, A.; Pasini, B.; Ottini, L.; Putignano, A.L.; Savarese, A.; Bernard, L.; Radice, P.; Healey, S.; Spurdle, A.; Chen, X.Q.; Beesley, J.; Rookus, M.A.; Verhoef, S.; Tilanus-Linthorst, M.A.; Vreeswijk, M.P.; Asperen, C.J.; Bodmer, D.; Ausems, M.G.E.M.; Os, T.A. van; Blok, M.J.; Meijers-Heijboer, H.E.J.; Hogervorst, F.B.L.; Goldgar, D.E.; Buys, S.; John, E.M.; Miron, A.; Southey, M.; Daly, M.B.; Harbst, K.; Borg, A.; Rantala, J.; Barbany-Bustinza, G.; Ehrencrona, H.; Stenmark-Askmalm, M.; Kaufman, B.; Laitman, Y.; Milgrom, R.; Friedman, E.; Domchek, S.M.; Nathanson, K.L.; Rebbeck, T.R.; Oskar, T.; Couch, F.J.; Wang, X.S.; Fredericksen, Z.; Cuadras, D.; Moreno, V.; Pientka, F.K.; Depping, R.; Caldes, T.; Osorio, A.; Benitez, J.; Bueren, J.; Heikkinen, T.; Nevanlinna, H.; Hamann, U.; Torres, D.; Caligo, M.A.; Godwin, A.K.; Imyanitov, E.N.; Janavicius, R.; Sinilnikova, O.M.; Stoppa-Lyonnet, D.; Mazoyer, S.; Verny-Pierre, C.; Castera, L.; Pauw, A. de; Bignon, Y.J.; Uhrhammer, N.; Peyrat, J.P.; Vennin, P.; Ferrer, S.F.; Collonge-Rame, M.A.; Mortemousque, I.; McGuffog, L.; Chenevix-Trench, G.; Pereira-Smith, O.M.; Antoniou, A.C.; Ceron, J.; Tominaga, K.; Surralles, J.; Pujana, M.A.; EMBRACE; kConFab; HEBON; BCFR; SWE-BRCA & GEMO Study Collaborators (2011), Exploring the link between MORF4L1 and risk of breast cancer, Breast Cancer Research 13(2): -.
- Huijts, P.E.A.; Dongen, M. van; Goeij, M.C.M. de; Moolenbroek, A.J. van; Blanken, F.; Vreeswijk, M.P.G.; Kruijf, E.M. de; Mesker, W.E.; Zwet, E.W. van; Tollenaar, R.A.E.M.; Smit, V.T.H.B.M.; Asperen, C.J. van & Devilee, P. (2011), Allele-specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10, Breast Cancer Research 13(4): -.
- Knappskog, S.; Bjornslett, M.; Myklebust, L.M.; Huijts, P.E.A.; Vreeswijk, M.P.; Edvardsen, H.; Guo, Y.L.; Zhang, X.M.; Yang, M.; Ylisaukko-oja, S.K.; Alhopuro, P.; Arola, J.; Tollenaar, R.A.E.M.; Asperen, C.J. van; Seynaeve, C.; Staalesen, V.; Chrisanthar, R.; Lokkevik, E.; Salvesen, H.B.; Evans, D.G.; Newman, W.G.; Lin, D.X.; Aaltonen, L.A.; Borresen-Dale, A.L.; Tell, G.S.; Stoltenberg, C.; Romundstad, P.; Hveem, K.; Lillehaug, J.R.; Vatten, L.; Devilee, P.; Dorum, A. & Lonning, P.E. (2011), The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians, Cancer Cell 19(2): 273-282.
- Ramus, S.J.; Kartsonaki, C.; Gayther, S.A.; Pharoah, P.D.P.; Sinilnikova, O.M.; Beesley, J.; Chen, X.Q.; McGuffog, L.; Healey, S.; Couch, F.J.; Wang, X.S.; Fredericksen, Z.; Peterlongo, P.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Roversi, G.; Barile, M.; Viel, A.; Allavena, A.; Ottini, L.; Papi, L.; Gismondi, V.; Capra, F.; Radice, P.; Greene, M.H.; Mai, P.L.; Andrulis, I.L.; Glendon, G.; Ozcelik, H.; Thomassen, M.; Gerdes, A.M.; Kruse, T.A.; Cruger, D.; Jensen, U.B.; Caligo, M.A.; Olsson, H.; Kristoffersson, U.; Lindblom, A.; Arver, B.; Karlsson, P.; Askmalm, M.S.; Borg, A.; Neuhausen, S.L.; Ding, Y.C.; Nathanson, K.L.; Domchek, S.M.; Jakubowska, A.; Lubinski, J.; Huzarski, T.; Byrski, T.; Gronwald, J.; Gorski, B.; Cybulski, C.; Debniak, T.; Osorio, A.; Duran, M.; Tejada, M.I.; Benitez, J.; Hamann, U.; Rookus, M.A.; Verhoef, S.; Tilanus-Linthorst, M.A.; Vreeswijk, M.P.; Bodmer, D.; Ausems, M.G.E.M.; Os, T.A. van; Asperen, C.J.; Blok, M.J.; Meijers-Heijboer, H.E.J.; Peock, S.; Cook, M.; Oliver, C.; Frost, D.; Dunning, A.M.; Evans, D.G.; Eeles, R.; Pichert, G.; Cole, T.; Hodgson, S.; Brewer, C.; Morrison, P.J.; Porteous, M.; Kennedy, M.J.; Rogers, M.T.; Side, L.E.; Donaldson, A.; Gregory, H.; Godwin, A.; Stoppa-Lyonnet, D.; Moncoutier, V.; Castera, L.; Mazoyer, S.; Barjhoux, L.; Bonadona, V.; Leroux, D.; Faivre, L.; Lidereau, R.; Nogues, C.; Bignon, Y.J.; Prieur, F.; Collonge-Rame, M.A.; Venat-Bouvet, L.; Fert-Ferrer, S.; Miron, A.; Buys, S.S.; Hopper, J.L.; Daly, M.B.; John, E.M.; Terry, M.B.; Goldgar, D.; Hansen, T.V.O.; Jonson, L.; Ejlertsen, B.; Agnarsson, B.A.; Offit, K.; Kirchhoff, T.; Vijai, J.; Dutra-Clarke, A.V.C.; Przybylo, J.A.; Montagna, M.; Casella, C.; Imyanitov, E.N.; Janavicius, R.; Blanco, I.; Lazaro, C.; Moysich, K.B.; Karlan, B.Y.; Gross, J.; Beattie, M.S.; Schmutzler, R.; Wappenschmidt, B.; Meindl, A.; Ruehl, I.; Fiebig, B.; Sutter, C.; Arnold, N.; Deissler, H.; Varon-Mateeva, R.; Kast, K.; Niederacher, D.; Gadzicki, D.; Caldes, T.; Hoya, M. de la; Nevanlinna, H.; Aittomaki, K.; Simard, J.; Soucy, P.; Spurdle, A.B.; Holland, H.; Chenevix-Trench, G.; Easton, D.F.; Antoniou, A.C.; OCGN; HEBON; EMBRACE; GEMO Study Collaborators; BCFR; KConFab Investigators & Consortium Investigators Modifiers (2011), Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers, JNCI: Journal of the National Cancer Institute 103(2).
- Engel, C.; Versmold, B.; Wappenschmidt, B.; Simard, J.; Easton, D.F.; Peock, S.; Cook, M.; Oliver, C.; Frost, D.; Mayes, R.; Evans, D.G.; Eeles, R.; Paterson, J.; Brewer, C.; McGuffog, L.; Antoniou, A.C.; Stoppa-Lyonnet, D.; Sinilnikova, O.M.; Barjhoux, L.; Frenay, M.; Michel, C.; Leroux, D.; Dreyfus, H.; Toulas, C.; Gladieff, L.; Uhrhammer, N.; Bignon, Y.J.; Meindl, A.; Arnold, N.; Varon-Mateeva, R.; Niederacher, D.; Preisler-Adams, S.; Kast, K.; Deissler, H.; Sutter, C.; Gadzicki, D.; Chenevix-Trench, G.; Spurdle, A.B.; Chen, X.Q.; Beesley, J.; Olsson, H.; Kristoffersson, U.; Ehrencrona, H.; Liljegren, A.; Luijt, R.B. van der; Os, T.A. van; Leeuwen, F.E. van; Domchek, S.M.; Rebbeck, T.R.; Nathanson, K.L.; Osorio, A.; Cajal, T.R.Y.; Konstantopoulou, I.; Benitez, J.; Friedman, E.; Kaufman, B.; Laitman, Y.; Mai, P.L.; Greene, M.H.; Nevanlinna, H.; Aittomaki, K.; Szabo, C.I.; Caldes, T.; Couch, F.J.; Andrulis, I.L.; Godwin, A.K.; Hamann, U.; Schmutzler, R.K.; Epidemiological Study Familial Bre; Kathleen Cuningham Fdn Consortium; Sweden SWE-BRCA; Hereditary Breast Ovarian Canc Grp & Consortium Investigators Modifiers (2010), Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers, Cancer Epidemiology, Biomarkers and Prevention 19(11): 2859-2868.
- Morgan, N.V.; Morris, M.R.; Cangul, H.; Gleeson, D.; Straatman-Iwanowska, A.; Davies, N.; Keenan, S.; Pasha, S.; Rahman, F.; Gentle, D.; Vreeswijk, M.P.G.; Devilee, P.; Knowles, M.A.; Ceylaner, S.; Trembath, R.C.; Dalence, C.; Kismet, E.; Koseoglu, V.; Rossbach, H.C.; Gissen, P.; Tannahill, D. & Maher, E.R. (2010), Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease, PLoS Genetics 6(2).
- Wang, X.S.; Pankratz, V.S.; Fredericksen, Z.; Tarrell, R.; Karaus, M.; McGuffog, L.; Pharaoh, P.D.; Ponder, B.A.; Dunning, A.M.; Peock, S.; Cook, M.; Oliver, C.; Frost, D.; Sinilnikova, O.M.; Stoppa-Lyonnet, D.; Mazoyer, S.; Houdayer, C.; Hogervorst, F.B.L.; Hooning, M.J.; Ligtenberg, M.J.; Spurdle, A.; Chenevix-Trench, G.; Schmutzler, R.K.; Wappenschmidt, B.; Engel, C.; Meindl, A.; Domchek, S.M.; Nathanson, K.L.; Rebbeck, T.R.; Singer, C.F.; Gschwantler-Kaulich, D.; Dressler, C.; Fink, A.; Szabo, C.I.; Zikan, M.; Foretova, L.; Claes, K.; Thomas, G.; Hoover, R.N.; Hunter, D.J.; Chanock, S.J.; Easton, D.F.; Antoniou, A.C.; Couch, F.J.; EMBRACE; GEMO; HEBON & kCon Fab (2010), Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers., Human Molecular Genetics 19(14): 2886-97.
- Antoniou, A.C.; Wang, X.S.; Fredericksen, Z.S.; McGuffog, L.; Tarrell, R.; Sinilnikova, O.M.; Healey, S.; Morrison, J.; Kartsonaki, C.; Lesnick, T.; Ghoussaini, M.; Barrowdale, D.; Peock, S.; Cook, M.; Oliver, C.; Frost, D.; Eccles, D.; Evans, D.G.; Eeles, R.; Izatt, L.; Chu, C.; Douglas, F.; Paterson, J.; Stoppa-Lyonnet, D.; Houdayer, C.; Mazoyer, S.; Giraud, S.; Lasset, C.; Remenieras, A.; Caron, O.; Hardouin, A.; Berthet, P.; Hogervorst, F.B.L.; Rookus, M.A.; Jager, A.; Ouweland, A. van den; Hoogerbrugge, N.; Luijt, R.B. van der; Meijers-Heijboer, H.; Garcia, E.B.G.; Devilee, P.; Vreeswijk, M.P.G.; Lubinski, J.; Jakubowska, A.; Gronwald, J.; Huzarski, T.; Byrski, T.; Gorski, B.; Cybulski, C.; Spurdle, A.B.; Holland, H.; Goldgar, D.E.; John, E.M.; Hopper, J.L.; Southey, M.; Buys, S.S.; Daly, M.B.; Terry, M.B.; Schmutzler, R.K.; Wappenschmidt, B.; Engel, C.; Meindl, A.; Preisler-Adams, S.; Arnold, N.; Niederacher, D.; Sutter, C.; Domchek, S.M.; Nathanson, K.L.; Rebbeck, T.; Blum, J.L.; Piedmonte, M.; Rodriguez, G.C.; Wakeley, K.; Boggess, J.F.; Basil, J.; Blank, S.V.; Friedman, E.; Kaufman, B.; Laitman, Y.; Milgrom, R.; Andrulis, I.L.; Glendon, G.; Ozcelik, H.; Kirchhoff, T.; Vijai, J.; Gaudet, M.M.; Altshuler, D.; Guiducci, C.; Loman, N.; Harbst, K.; Rantala, J.; Ehrencrona, H.; Gerdes, A.M.; Thomassen, M.; Sunde, L.; Peterlongo, P.; Manoukian, S.; Bonanni, B.; Viel, A.; Radice, P.; Caldes, T.; Hoya, M. de la; Singer, C.F.; Fink-Retter, A.; Greene, M.H.; Mai, P.L.; Loud, J.T.; Guidugli, L.; Lindor, N.M.; Hansen, T.V.O.; Nielsen, F.C.; Blanco, I.; Lazaro, C.; Garber, J.; Ramus, S.J.; Gayther, S.A.; Phelan, C.; Narod, S.; Szabo, C.I.; Benitez, J.; Osorio, A.; Nevanlinna, H.; Heikkinen, T.; Caligo, M.A.; Beattie, M.S.; Hamann, U.; Godwin, A.K.; Montagna, M.; Casella, C.; Neuhausen, S.L.; Karlan, B.Y.; Tung, N.; Toland, A.E.; Weitzel, J.; Olopade, O.; Simard, J.; Soucy, P.; Rubinstein, W.S.; Arason, A.; Rennert, G.; Martin, N.G.; Montgomery, G.W.; Chang-Claude, J.; Flesch-Janys, D.; Brauch, H.; Severi, G.; Baglietto, L.; Cox, A.; Cross, S.S.; Miron, P.; Gerty, S.M.; Tapper, W.; Yannoukakos, D.; Fountzilas, G.; Fasching, P.A.; Beckmann, M.W.; Silva, I.D.S.; Peto, J.; Lambrechts, D.; Paridaens, R.; Rudiger, T.; Forsti, A.; Winqvist, R.; Pylkaas, K.; Diasio, R.B.; Lee, A.M.; Eckel-Passow, J.; Vachon, C.; Blows, F.; Driver, K.; Dunning, A.; Pharoah, P.P.D.; Offit, K.; Pankratz, V.S.; Hakonarson, H.; Chenevix-Trench, G.; Easton, D.F.; Couch, F.J.; EMBRACE; GEMO Study Collaborators; HEBON; KConFab; SWE-BRCA; MOD SQUAD & GENICA (2010), A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population, Nature Genetics 42(10): 885+.
- Mohammadi L, Vreeswijk MP, Oldenburg R, van den Ouweland A, Oosterwijk JC, van der Hout AH, Hoogerbrugge N, Ligtenberg M, Ausems MG & van der Luijt RB (2009), A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example, BMC Cancer 9.
- Jonsdottir AB, Vreeswijk MPG, Wolterbeek R, Devilee P, Tanke HJ, Eyfjord JE & Szuhai K (2009), BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts, Analytical Cellular Pathology / Cellular Oncology 31(3): 191-201.
- Garcia EBG, Oosterwijk JC, Timmermans M, van Asperen CJ, Hogervorst FBL, Hoogerbrugge N, Oldenburg R, Verhoef S, Dommering CJ & Ausems MGEM (2009), A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history, Breast Cancer Research 11(1).
- Vreeswijk MPG, Kraan JN, van der Klift HM, Vink GR, Cornelisse CJ, Wijnen JT, Bakker E, van Asperen CJ & Devilee P (2009), Intronic Variants in BRCA1 and BRCA2 That Affect RNA Splicing Can Be Reliably Selected by Splice-Site Prediction Programs, Human Mutation 30(1): 107-114.
- Vreeswijk MP, Meijers CM, Giphart-Gassler M, Vrieling H, van Zeeland AA, Mullenders LH & Loenen WA (2009), Site-specific analysis of UV-induced cyclobutane pyrimidine dimers in nucleotide excision repair-proficient and -deficient hamster cells: Lack of correlation with mutational spectra., Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 663(1-2): 7-14.
- Mohammadi L, Vreeswijk MPG, Wijnen J, Devilee P, van Asperen CJ & van Houwelingen JC (2008), A simple method for co-segregation analysis to evaluate the pathogenicity of DNA variants of unknown significance in BRCA1 and BRCA2, Annals of Human Genetics 72.
- Mohammadi L, Vreeswijk MPG, Wijnen J, Devilee P, van Asperen CJ & van Houwelingen JC (2008), A simple method for co-segregation analysis to evaluate the pathogenicity of DNA variants of unknown significance in BRCA1 and BRCA2, Genetic Epidemiology 32(7).
- Huijts PEA, Vreeswijk MPG, Kroeze-Jansema KHG, Jacobi CE, Seynaeve C, Krol-Warmerdam EMM, Wijers-Koster PM, Blom JC, Pooley KA, Klijn JGM, Tollenaar RAEM, Devilee P & van Asperen CJ (2007), Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases, Breast Cancer Research 9(6).
- van Zeeland AA, Vreeswijk MPG, de Gruijl FR, van Kranen HJ, Vrieling H & Mullenders LFH (2005), Transcription-coupled repair: Impact on UV-induced mutagenesis in cultured rodent cells and mouse skin tumors, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 577(1-2).
- Kobayashi K, O'Driscoll M, Macpherson P, Mullenders L, Vreeswijk M & Karran P (2004), XPC lymphoblastoid cells defective in the hMutS alpha DNA mismatch repair complex exhibit normal sensitivity to UVC radiation and normal transcription-coupled excision repair of DNA cyclobutane pyrimidine dimers, DNA Repair 3(6).
- van der Wees CGC, Vreeswijk MPG, Persoon M, van der Laarse A, van Zeeland AA & Mullenders LHF (2003), Deficient global genome repair of UV-induced cyclobutane pyrimidine dimers in terminally differentiated myocytes and proliferating fibroblasts from the rat heart, DNA Repair 2(12).
- George JW, Salazar EP, Vreeswijk MPG, Lamerdin JE, Reardon JT, Zdzienicka MZ, Sancar A, Kadkhodayan S, Tebbs RS, Mullenders LHF & Thompson LH (2001), Restoration of nucleotide excision repair in a helicase-deficient XPD mutant from intragenic suppression by a trichothiodystrophy mutation, Molecular and Cellular Biology 21(21).