Maaike Vreeswijk
- Naam
- M.P.G. Vreeswijk
- Telefoon
- 31655768369
- m.p.g.vreeswijk@lumc.nl
- ORCID iD
- 0000-0003-4068-9271
- LUMC-extern
Contact
- 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).
- 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).
- 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.
- 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.
- 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.
- 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.
- 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.
- 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).
- 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.
- 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.
- 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.
- 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).
- 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.
- 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.
- 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; 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).
- 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.
- 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).
- 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.
- 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.
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