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Marinus Blok

Ir.

 https://orcid.org/0000-0002-7935-5933
1998 …2024

Research activity per year

  • 58 Article
  • 2 Comment/Letter to the editor
  • 2 (Systematic) Review article
  • 1 Doctoral Thesis
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Search results

  • A guide for functional analysis of BRCA1 variants of uncertain significance

    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., Nov 2012, In: Human Mutation. 33, 11, p. 1526-1537

    Research output: Contribution to journal › Article › Academic › peer-review

  • Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

    Li, H. Y., Terry, M. B., Antoniou, A. C., Phillips, K. A., Kast, K., Mooij, T. M., Engel, C., Nogues, C., Stoppa-Lyonnet, D., Lasset, C., Berthet, P., Mari, V., Caron, O., Barrowdale, D., Frost, D., Brewer, C., Evans, D. G., Izatt, L., Side, L., Walker, L., & 36 othersTischkowitz, M., Rogers, M. T., Porteous, M. E., Snape, K., Meijers-Heijboer, H. E. J., Gille, J. J. P., Blok, M. J., Hoogerbrugge, N., Daly, M. B., Andrulis, I. L., Buys, S. S., John, E. M., McLachlan, S. A., Friedlander, M., Tan, Y. Y., Osorio, A., Caldes, T., Jakubowska, A., Simard, J., Singer, C. F., Olah, E., Navratilova, M., Foretova, L., Gerdes, A. M., Roos-Blom, M. J., Arver, B., Olsson, H., Schmutzler, R. K., Hopper, J. L., Milne, R. L., EMBRACE Study, GENEPSO Study, HEBON Investigators, KConFab Investigators, Andrieu, N. & Goldgar, D. E., 1 Feb 2020, In: Cancer Epidemiology Biomarkers & Prevention. 29, 2, p. 368-378 11 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

    Blanco, I., Kuchenbaecker, K., Cuadras, D., Wang, X., Barrowdale, D., Ruiz de Garibay, G., Librado, P., Sanchez-Gracia, A., Rozas, J., Bonifaci, N., McGuffog, L., Pankratz, V. S., Islam, A., Mateo, F., Berenguer, A., Petit, A., Catala, I., Brunet, J., Feliubadalo, L., Tornero, E., & 175 othersBenitez, J., Osorio, A., Cajal, T. R. Y., Nevanlinna, H., Aittomaki, K., Arun, B. K., Toland, A. E., Karlan, B. Y., Walsh, C., Lester, J., Greene, M. H., Mai, P. L., Nussbaum, R. L., Andrulis, I. L., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Claes, K., Van Maerken, T., Diez, O., Hansen, T. V., Jonson, L., Gerdes, A-M., Ejlertsen, B., de la Hoya, M., Caldes, T., Dunning, A. M., Oliver, C., Fineberg, E., Cook, M., Peock, S., McCann, E., Murray, A., Jacobs, C., Pichert, G., Lalloo, F., Chu, C., Dorkins, H., Paterson, J., Ong, K-R., Teixeira, M. R., Teixeira, Hogervorst, F. B. L., van der Hout, A. H., Seynaeve, C., van der Luijt, R. B., Ligtenberg, M. J. L., Devilee, P., Wijnen, J. T., Rookus, M. A., Meijers-Heijboer, H. E. J., Blok, M. J., van den Ouweland, A. M. W., Aalfs, C. M., Rodriguez, G. C., Phillips, K-A. A., Piedmonte, M., Nerenstone, S. R., Bae-Jump, V. L., O'Malley, D. M., Ratner, E. S., Schmutzler, R. K., Wappenschmidt, B., Rhiem, K., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H. J., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Gehrig, A., Bojesen, A., Pedersen, I. S., Sunde, L., Jensen, U. B., Thomassen, M., Kruse, T. A., Foretova, L., Peterlongo, P., Bernard, L., Peissel, B., Scuvera, G., Manoukian, S., Radice, P., Ottini, L., Montagna, M., Agata, S., Maugard, C., Simard, J., Soucy, P., Berger, A., Fink-Retter, A., Singer, C. F., Rappaport, C., Geschwantler-Kaulich, D., Tea, M-K., Pfeiler, G., John, E. M., Miron, A., Neuhausen, S. L., Terry, M. B., Chung, W. K., Daly, M. B., Goldgar, D. E., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Fostira, F., Konstantopoulou, I., Garber, J., Godwin, A. K., Olah, E., Narod, S. A., Rennert, G., Paluch, S. S., Laitman, Y., Friedman, E., Liljegren, A., Rantala, J., Stenmark-Askmalm, M., Loman, N., Imyanitov, E. N., Hamann, U., Spurdle, A. B., Healey, S., Weitzel, J. N., Herzog, J., Margileth, D., Gorrini, C., Esteller, M., Gomez, A., Sayols, S., Vidal, E., Heyn, H., Stoppa-Lyonnet, D., Leone, M., Barjhoux, L., Fassy-Colcombet, M., de Pauw, A., Lasset, C., Ferrer, S. F., Castera, L., Berthet, P., Cornelis, F., Bignon, Y-J., Damiola, F., Mazoyer, S., Sinilnikova, O. M., Maxwell, C. A., Vijai, J., Robson, M., Kauff, N., Corines, M. J., Villano, D., Cunningham, J., Lee, A., Lindor, N., Lazaro, C., Easton, D. F., Offit, K., Chenevix-Trench, G., Couch, F. J., Antoniou, A. C. & Angel Pujana, M., 1 Apr 2015, In: PLOS ONE. 10, 4, e0120020.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

    Hamdi, Y., Soucy, P., Kuchenbaeker, K. B., Pastinen, T., Droit, A., Lemacon, A., Adlard, J., Aittomaki, K., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Azzollini, J., Bane, A., Barjhoux, L., Barrowdale, D., Benitez, J., Berthet, P., Blok, M. J., Bobolis, K., & 148 othersBonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C., Buecher, B., Buys, S. S., Caligo, M. A., Chiquette, J., Chung, W. K., Claes, K. B. M., Daly, M. B., Damiola, F., Davidson, R., De la Hoya, M., De Leeneer, K., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Eccles, D., Eeles, R., Einbeigi, Z., Ejlertsen, B., Engel, C., Evans, D. G., Feliubadalo, L., Foretova, L., Fostira, F., Foulkes, W. D., Fountzilas, G., Friedman, E., Frost, D., Ganschow, P., Ganz, P. A., Garber, J., Gayther, S. A., Gerdes, A-M., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gronwald, J., Hahnen, E., Hamann, U., Hansen, T. V. O., Hart, S., Hays, J. L., Hogervorst, F. B. L., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Joseph, V., Just, W., Kaczmarek, K., Karlan, B. Y., Kets, C. M., Kirk, J., Kriege, M., Laitman, Y., Laurent, M., Lazaro, C., Leslie, G., Lester, J., Lesueur, F., Liljegren, A., Loman, N., Loud, J. T., Manoukian, S., Mariani, M., Mazoyer, S., McGuffog, L., Meijers-Heijboer, H. E. J., Meindl, A., Miller, A., Montagna, M., Mulligan, A. M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nussbaum, R. L., Olah, E., Olopade, O. I., Ong, K., Oosterwijk, J. C., Osorio, A., Papi, L., Park, S. K., Pedersen, I. S., Peissel, B., Segura, P. P., Peterlongo, P., Phelan, C. M., Radice, P., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Richardson, A., Robson, M., Rodriguez, G. C., Rookus, M. A., Schmutzler, R. K., Sevenet, N., Shah, P. D., Singer, C. F., Slavin, T. P., Snape, K., Sokolowska, J., Sonderstrup, I. M. H., Southey, M., Spurdle, A. B., Stadler, Z., Stoppa-Lyonnet, D., Sukiennicki, G., Sutter, C., Tan, Y., Tea, M-K., Teixeira, M. R., Teule, A., Teo, S-H., Terry, M. B., Thomassen, M., Tihomirova, L., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tung, N., van den Ouweland, A. M. W., van der Luijt, R. B., van Engelen, K., van Rensburg, E. J., Varon-Mateeva, R., Wappenschmidt, B., Wijnen, J. T., Rebbeck, T., Chenevix-Trench, G., Offit, K., Couch, F. J., Nord, S., Easton, D. F., Antoniou, A. C. & Simard, J., Jan 2017, In: Breast Cancer Research and Treatment. 161, 1, p. 117-134 18 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

    Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittomaki, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmana, J., & 35 othersBarkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldes, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., EMBRACE Collaborators, GEMO Study Collaborators, HEBON Investigators, KConFab Investigators & Rebbeck, T. R., 1 Feb 2020, In: Cancer Research. 80, 3, p. 624-638 15 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Hereditary Breast and Ovarian Cancer, Blok, M., Gomez Garcia, E. & Schmutzler, R. K., Nov 2010, In: Cancer Epidemiology Biomarkers & Prevention. 19, 11, p. 2859-2868

    Research output: Contribution to journal › Article › Academic › peer-review

  • BRCA1 and BRCA2 5 ' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

    Burke, L. J., Sevcik, J., Gambino, G., Tudini, E., Mucaki, E. J., Shirley, B. C., Whiley, P., Parsons, M. T., De Leeneer, K., Gutierrez-Enriquez, S., Santamarina, M., Caputo, S. M., dos Santos, E. S., Soukupova, J., Janatova, M., Zemankova, P., Lhotova, K., Stolarova, L., Borecka, M., Moles-Fernandez, A., & 18 othersManoukian, S., Bonanni, B., Edwards, S. L., Blok, M. J., Hansen, T. V. O., Rossing, M., Diez, O., Vega, A., Claes, K. B. M., Goldgar, D. E., Rouleau, E., Radice, P., Peterlongo, P., Rogan, P. K., Caligo, M., Spurdle, A. B., Brown, M. A. & ENIGMA Consortium, 1 Dec 2018, In: Human Mutation. 39, 12, p. 2025-2039 15 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • BRCA1 Circos: a visualisation resource for functional analysis of missense variants

    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., van der Luijt, R. B., Pena, M. S., Neuhausen, S. L., Donenberg, T., & 10 othersMachackova, 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., Apr 2015, In: Journal of Medical Genetics. 52, 4, p. 224-230

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

    Brandao, R. D., van Roozendaal, K., Tserpelis, D., Garcia, E. G. & Blok, M. J., Oct 2011, In: Breast Cancer Research and Treatment. 129, 3, p. 971-982

    Research output: Contribution to journal › Article › Academic › peer-review

  • Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    OCGN ; SWE-BRCA ; HEBON ; EMBRACE ; GEMO Study Collaborators ; kConFab Investigators ; Consortium Investigators Modifiers, Gomez Garcia, E., van Roozendaal, K. & Blok, M., 15 Aug 2011, In: Human Molecular Genetics. 20, 16, p. 3304-3321

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

    Antoniou, A. C., Beesley, J., McGuffog, L., Sinilnikova, O. M., Healey, S., Neuhausen, S. L., Ding, Y. C., Rebbeck, T. R., Weitzel, J. N., Lynch, H. T., Isaacs, C., Ganz, P. A., Tomlinson, G. E., Olopade, O. I., Couch, F. J., Wang, X., Lindor, N. M., Pankratz, V. S., Radice, P., Manoukian, S., & 158 othersPeissel, B., Zaffaroni, D., Barile, M., Viel, A., Allavena, A., Dall'Olio, V., Peterlongo, P., Szabo, C. I., Zikan, M., Claes, K., Poppe, B., Foretova, L., Mai, P. L., Greene, M. H., Rennert, G., Lejbkowicz, F., Glendon, G., Ozcelik, H., Andrulis, I. L., Thomassen, M., Gerdes, A-M., Sunde, L., Cruger, D., Jensen, U. B., Caligo, M. A., Friedman, E., Kaufman, B., Laitman, Y., Milgrom, R., Dubrovsky, M., Cohen, S., Borg, A., Jernstroem, H., Lindblom, A., Rantala, J., Stenmark-Askmalm, M., Melin, B., Nathanson, K., Domchek, S., Jakubowska, A., Lubinski, J., Huzarski, T., Osorio, A., Lasa, A., Duran, M., Tejada, M-I., Godino, J., Benitez, J., Hamann, U., Kriege, M., Hoogerbrugge, N., van der Luijt, R. B., van Asperen, C. J., Devilee, P., Meijers-Heijboer, H. E. J., Blok, M. J., Aalfs, C. M., Hogervorst, F. B. L., Rookus, M. A., Cook, M., Oliver, C., Frost, D., Conroy, D., Evans, D. G., Lalloo, F., Pichert, G., Davidson, R., Cole, T., Cook, J., Paterson, J., Hodgson, S. V., Morrison, P. J., Porteous, M. E., Walker, L., Kennedy, M. J., Dorkins, H., Peock, S., Godwin, A. K., Stoppa-Lyonnet, D., de Pauw, A., Mazoyer, S., Bonadona, V., Lasset, C., Dreyfus, H., Leroux, D., Hardouin, A., Berthet, P., Faivre, L., Loustalot, C., Noguchi, T., Sobol, H., Rouleau, E., Nogues, C., Frenay, M., Venat-Bouvet, L., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S., Yassin, Y., Miron, A., Goldgar, D. E., Singer, C. F., Dressler, A. C., Gschwantler-Kaulich, D., Pfeiler, G., Hansen, T. V. O., Jnson, L., Agnarsson, B. A., Kirchhoff, T., Offit, K., Devlin, V., Dutra-Clarke, A., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E. N., Tihomirova, L., Blanco, I., Lazaro, C., Ramus, S. J., Sucheston, L., Karlan, B. Y., Gross, J., Schmutzler, R., Wappenschmidt, B., Engel, C., Meindl, A., Lochmann, M., Arnold, N., Heidemann, S., Varon-Mateeva, R., Niederacher, D., Sutter, C., Deissler, H., Gadzicki, D., Preisler-Adams, S., Kast, K., Schoenbuchner, I., Caldes, T., De La Hoya, M., Aittomaeki, K., Nevanlinna, H., Simard, J., Spurdle, A. B., Holland, H., Chen, X., Platte, R., Chenevix-Trench, G. & Easton, D. F., 1 Dec 2010, In: Cancer Research. 70, 23, p. 9742-9754

    Research output: Contribution to journal › Article › Academic › peer-review

  • Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers

    Spurdle, A. B., Marquart, L., McGuffog, L., Healey, S., Sinilnikova, O. M., Wan, F., Chen, X., Beesley, J., Singer, C. F., Dressler, A-C., Gschwantler-Kaulich, D., Blum, J. L., Tung, N., Weitzel, J., Lynch, H. T., Garber, J., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., & 57 othersFrost, D., Conroy, D., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Selkirk, C. G., Daly, M. B., Isaacs, C., Stoppa-Lyonnet, D., Buecher, B., Belotti, M., Mazoyer, S., Barjhoux, L., Verny-Pierre, C., Lasset, C., Dreyfus, H., Pujol, P., Collonge-Rame, M-A., Rookus, M. A., Verhoef, S., Kriege, M., Hoogerbrugge, N., Ausems, M. G. E. M., Os, T. A. M., Wijnen, J. T., Devilee, P., Meijers-Heijboer, H. E. J., Blok, M. J., Heikkinen, T., Nevanlinna, H., Jakubowska, A., Lubinski, J., Huzarski, T., Byrski, T., Durocher, F., Couch, F. J., Lindor, N. M., Wang, X., Thomassen, M., Domchek, S., Nathanson, K., Caligo, M. A., Jernstrom, H., Liljegren, A., Ehrencrona, H., Karlsson, P., Ganz, P. A., Olopade, O. I., Tomlinson, G. E., Neuhausen, S. L., Antoniou, A. C., Chenevix-Trench, G. & Rebbeck, T. R., May 2011, In: Cancer Epidemiology Biomarkers & Prevention. 20, 5, p. 1032-1038

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

    HEBON, Gomez Garcia, E., Blok, M. & van Roozendaal, K., 15 Jul 2010, In: Human Molecular Genetics. 19, 14, p. 2886-2897

    Research output: Contribution to journal › Article › Academic › peer-review

  • Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Couch, F. J., Gaudet, M. M., Antoniou, A. C., Ramus, S. J., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., Wang, X., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Sinilnikova, O. M., Andrulis, I. L., Ozcelik, H., Mulligan, A. M., Thomassen, M., Gerdes, A-M., & 170 othersJensen, U. B., Skytte, A-B., Kruse, T. A., Caligo, M. A., von Wachenfeldt, A., Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P., Nathanson, K. L., Rebbeck, T. R., Domchek, S. M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Gorski, B., Osorio, A., Duran, M., Isabel Tejada, M., Benitez, J., Hamann, U., Hogervorst, F. B. L., van Os, T. A., van Leeuwen, F. E., Meijers-Heijboer, H. E. J., Wijnen, J., Blok, M. J., Kets, M., Hooning, M. J., Oldenburg, R. A., Ausems, M. G. E. M., Peock, S., Frost, D., Ellis, S. D., Platte, R., Fineberg, E., Evans, D. G., Jacobs, C., Eeles, R. A., Adlard, J., Davidson, R., Eccles, D. M., Cole, T., Cook, J., Paterson, J., Brewer, C., Douglas, F., Hodgson, S. V., Morrison, P. J., Walker, L., Porteous, M. E., Kennedy, M. J., Side, L. E., Bove, B., Godwin, A. K., Stoppa-Lyonnet, D., Fassy-Colcombet, M., Castera, L., Cornelis, F., Mazoyer, S., Leone, M., Boutry-Kryza, N., Bressac-de Paillerets, B., Caron, O., Pujol, P., Coupier, I., Delnatte, C., Akloul, L., Lynch, H. T., Snyder, C. L., Buys, S. S., Daly, M. B., Terry, M., Chung, W. K., John, E. M., Miron, A., Southey, M. C., Hopper, J. L., Goldgar, D. E., Singer, C. F., Rappaport, C., Tea, M-K. M., Fink-Retter, A., Hansen, T. V. O., Nielsen, F. C., Arason, A., Vijai, J., Shah, S., Sarrel, K., Robson, M. E., Piedmonte, M., Phillips, K., Basil, J., Rubinstein, W. S., Boggess, J., Wakeley, K., Ewart-Toland, A., Montagna, M., Agata, S., Imyanitov, E. N., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Feliubadalo, L., Brunet, J., Gayther, S. A., Pharoah, P. P. D., Odunsi, K. O., Karlan, B. Y., Walsh, C. S., Olah, E., Teo, S. H., Ganz, P. A., Beattie, M. S., van Rensburg, E. J., Dorfling, C. M., 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., Heinritz, W., Caldes, T., de la Hoya, M., Muranen, T. A., Nevanlinna, H., Tischkowitz, M., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Lindor, N. M., Fredericksen, Z., Pankratz, V. S., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Barile, M., Bernard, L., Viel, A., Giannini, G., Varesco, L., Radice, P., Greene, M. H., Mai, P. L., Easton, D. F., Chenevix-Trench, G., Offit, K. & Simard, J., Apr 2012, In: Cancer Epidemiology Biomarkers & Prevention. 21, 4, p. 645-657

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

    Colombo, M., Blok, M. J., Whiley, P., Santamarina, M., Gutierrez-Enriquez, S., Romero, A., Garre, P., Becker, A., Smith, L. D., De Vecchi, G., Brandao, R. D., Tserpelis, D., Brown, M., Blanco, A., Bonache, S., Menendez, M., Houdayer, C., Foglia, C., Fackenthal, J. D., Baralle, D., & 9 othersWappenschmidt, B., Diaz-Rubio, E., Caldes, T., Walker, L., Diez, O., Vega, A., Spurdle, A. B., Radice, P. & De La Hoya, M., 15 Jul 2014, In: Human Molecular Genetics. 23, 14, p. 3666-3680

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Hakkaart, C., Pearson, J. F., Marquart, L., Dennis, J., Wiggins, G. A. R., Barnes, D. R., Robinson, B. A., Mace, P. D., Aittomäki, K., Andrulis, I. L., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Belhadj, S., Berger, L., Blok, M. J., Boonen, S. E., Borde, J., Bradbury, A. R., & 36 othersBrunet, J., Buys, S. S., Caligo, M. A., Campbell, I., Chung, W. K., Claes, K. B. M., Collonge-Rame, M-A., Cook, J., Cosgrove, C., Couch, F. J., Daly, M. B., Dandiker, S., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Dhawan, M., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Easton, D. F., Ehrencrona, H., Engel, C., Evans, D. G., Faust, U., Feliubadaló, L., Fostira, F., Friedman, E., Walker, L. C., GEMO Study Collaborators, EMBRACE Collaborators, SWE BRCA, KConFab Investigators & HEBON Investigators, 6 Oct 2022, In: Communications Biology. 5, 1, 15 p., 1061.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Detection of exon skipping events in BRCA1 RNA using MLPA kit P002

    Brandao, R. D., Tserpelis, D., Garcia, E. G. & Blok, M. J., Jul 2012, In: Molecular Biology Reports. 39, 7, p. 7429-7433

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Diagnostic value of monitoring human cytomegalovirus late pp67 mRNA expression in renal-allograft recipients by nucleic acid sequence-based amplification.

    Blok, M. J., Goossens, V. J., Vanherle, S. J. V., Top, B., Tacken, N., Middeldorp, M. J., Christiaans, M. H., van Hooff, J. P. & Bruggeman, C. A. M. V. A., 1 Jan 1998, In: Journal of Clinical Microbiology. 36, 5, p. 1341-1346 6 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Deprez, R. H. L., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., & 3 othersLaros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec 2019, In: Human Mutation. 40, 12, p. 2230-2238 9 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection

    van Harssel, J. J., van Roozendaal, C. E., Detisch, Y., Brandao, R. D., Paulussen, A. D. C., Zeegers, M. P. A., Blok, M. J. & Gomez Garcia, E. B., Jun 2010, In: Familial Cancer. 9, 2, p. 193-201 9 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

    Stolarova, L., Kleiblova, P., Zemankova, P., Stastna, B., Janatova, M., Soukupova, J., Achatz, M. I., Ambrosone, C., Apostolou, P., Arun, B. K., Auer, P., Barnard, M., Bertelsen, B., Blok, M. J., Boddicker, N., Brunet, J., Burnside, E. S., Calvello, M., Campbell, I., Chan, S. H., & 31 othersChen, F., Chiang, J. B., Coppa, A., Cortesi, L., Crujeiras-González, A., De Leeneer, K., De Putter, R., DePersia, A., Devereux, L., Domchek, S., Efremidis, A., Engel, C., Ernst, C., Evans, D. G. R., Feliubadaló, L., Fostira, F., Fuentes-Ríos, O., Gómez-García, E. B., González, S., Haiman, C., Hansen, T. V. O., Hauke, J., Hodge, J., Hu, C., Huang, H., Ishak, N. D. B., Iwasaki, Y., Konstantopoulou, I., Biobank Japan, Consortium CZECANCA & Kleibl, Z., 15 Aug 2023, In: Clinical Cancer Research. 29, 16, p. 3037-3050 14 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

    De Leeneer, K., Van Bockstal, M., De Brouwer, S., Swietek, N., Schietecatte, P., Sabbaghian, N., Van den Ende, J., Willocx, S., Storm, K., Blaumeiser, B., Van Asperen, C. J., Wijnen, J. T., Leunen, K., Legius, E., Michils, G., Matthijs, G., Blok, M. J., Gomez-Garcia, E., De Paepe, A., Tischkowitz, M., & 2 othersPoppe, B. & Claes, K., May 2012, In: Breast Cancer Research and Treatment. 133, 1, p. 393-398

    Research output: Contribution to journal › Article › Academic › peer-review

  • Exploring the link between MORF4L1 and risk of breast cancer

    HEBON, van Roozendaal, K., Gomez Garcia, E., Tominaga, K., Surrallés, J. & Pujana, M. A., 2011, In: Breast Cancer Research. 13, 2

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

    Figlioli, G., Billaud, A., Ahearn, T. U., Antonenkova, N. N., Becher, H., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Blok, M. J., Bogdanova, N. V., Bonanni, B., Burwinkel, B., Camp, N. J., Campbell, A., Castelao, J. E., Cessna, M. H., Chanock, S. J., Czene, K., Devilee, P., & 33 othersDork, T., Engel, C., Eriksson, M., Fasching, P. A., Figueroa, J. D., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Gonzalez-Neira, A., Grassmann, F., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harrington, P. A., He, W., Hillemanns, P., Hollestelle, A., Hooning, M. J., Hoppe, R., Howell, A., Humphreys, K., Jager, A., Jakubowska, A., Khusnutdinova, E. K., Ko, Y. D., Kristensen, V. N., Lindblom, A., KConFab Investigators, NBCS Collaborators & Peterlongo, P., 1 May 2023, In: European Journal of Human Genetics. 31, 5, p. 578-587 10 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Fachal, L., Aschard, H., Beesley, J., Barnes, D. R., Allen, J., Kar, S., Pooley, K. A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemacon, A., Lush, M., Tyrer, J. P., Ghoussaini, M., Marjaneh, M. M., Jiang, X., Agata, S., Aittomaki, K., Rosario Alonso, M., & 38 othersAndrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arason, A., Arndt, V., Aronson, K. J., Arun, B. K., Auber, B., Auer, P. L., Azzollini, J., Balmana, J., Barkardottir, R. B., Barrowdale, D., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Bialkowska, K., Blanco, A. M., Blomqvist, C., Blot, W., Bogdanova, N., Bojesen, S. E., Bolla, M. K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Brenner, H., de Boer, M., Garcia, E. G., Blok, M., GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Dunning, A. M. & Kraft, P., Jan 2020, In: Nature Genetics. 52, 1, p. 56–73 18 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  • FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers

    Brandao, R. D., van Roozendaal, K., Tserpelis, D. & Blok, M. J., Aug 2013, In: Human Reproduction. 28, 8, p. 2308-2311

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays

    Bouwman, P., van der Heijden, I., van der Gulden, H., de Bruijn, R., Braspenning, M. E., Moghadasi, S., Wessels, L. F. A., Vreeswijk, M. P. G., Jonkers, J., Blok, M. & Dutch-Belgian VUS workgroup, 1 Sept 2020, In: Clinical Cancer Research. 26, 17, p. 4559-4568 10 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Generation and initial characterization of novel tumour organoid models to study human pancreatic cancer-induced cachexia

    Vaes, R. D. W., van Dijk, D. P. J., Welbers, T. T. J., Blok, M. J., Aberle, M. R., Heij, L., Boj, S. F., Olde Damink, S. W. M. & Rensen, S. S., Dec 2020, In: Journal of cachexia, sarcopenia and muscle. 11, 6, p. 1509-1524 16 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

    Nielsen, S., Romero, I. L., Olopade, O. I., Eccles, D., Eeles, R., Wallis, Y., Al-Mulla, F., Balmana, J., Diez, O., De La Hoya, M., Lazaro, C., Vega, A., Biancolella, M., Piane, M., Caligo, M., Capone, G. L., Cavalli, P., Cortesi, L., de Toffol, S., Mori, L., & 42 othersNaldi, N., Puzzo, M., Sini, M. C., Tedaldi, G., Tibiletti, M. G., Varesco, L., De Nicolo, A., Blok, M., Gómez-García, E. B., Mensenkamp, A. R., Moghadasi, S., Chan, T. L. C., Claes, K. B. M., Couch, F., Domchek, S. M., Efremidis, A., Fostira, F., Goldgar, D. E., Hadjisavvas, A., Loizidou, M., Rossing, M., Roed Nielsen, H., Thomassen, M., Pedersen, I. S., Hirasawa, A., Houdayer, C., Krieger, S., Kleiblova, P., Soukupova, J., Monteiro, A. N., Morrow, A., Pachter, N. S., Spurdle, A. B., Palmero, E. I., Robson, M., Solano, A. R., Teixeira, M. R., Toland, A. E., Törngren, T., Vaccari, E., Wappenschmidt, B. & Weitzel, J. N., 26 Oct 2018, In: JCO Precision Oncology. 2, p. 1-43 43 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

    HEBON & Gomez Garcia, E., Jan 2011, In: Journal of the National Cancer Institute. 103, 2

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Genome sequencing as a generic diagnostic strategy for rare disease

    Schobers, G., Derks, R., den Ouden, A., Swinkels, H., van Reeuwijk, J., Bosgoed, E., Lugtenberg, D., Sun, S. M., Corominas Galbany, J., Weiss, M., Blok, M. J., Olde Keizer, R. A. C. M., Hofste, T., Hellebrekers, D., de Leeuw, N., Stegmann, A., Kamsteeg, E-J., Paulussen, A. D. C., Ligtenberg, M. J. L., Bradley, X. Z., & 10 othersPeden, J., Gutierrez, A., Pullen, A., Payne, T., Gilissen, C., van den Wijngaard, A., Brunner, H. G., Nelen, M., Yntema, H. G. & Vissers, L. E. L. M., 14 Feb 2024, In: Genome Medicine. 16, 1, 11 p., 32.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

    Couch, F. J., Wang, X., McGuffog, L., Lee, A., Olswold, C., Kuchenbaecker, K. B., Soucy, P., Fredericksen, Z., Barrowdale, D., Dennis, J., Gaudet, M. M., Dicks, E., Kosel, M., Healey, S., Sinilnikova, O. M., Lee, A., Bacot, F., Vincent, D., Hogervorst, F. B. L., Peock, S., & 32 othersStoppa-Lyonnet, D., Jakubowska, A., Radice, P., Schmutzler, R. K., Domchek, S. M., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Greene, M. H., Karlan, B. Y., Garber, J., Phelan, C. M., Weitzel, J. N., Montagna, M., Olah, E., Andrulis, I. L., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Nevanlinna, H., Osorio, A., Terry, M. B., Daly, M. B., Gomez Garcia, E., Blok, M. J. & Author collaboration, Mar 2013, In: Plos Genetics. 9, 3, 21 p., 1003212.

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    Open Access

  • Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

    de Jonge, M. M., Ritterhouse, L. L., de Kroon, C. D., Vreeswijk, M. P. G., Segal, J. P., Puranik, R., Rookus, M. A., Hogervorst, F. B. L., van Leeuwen, F. E., Adank, M. A., Schmidt, M. K., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Boere, I. A., van Asperen, C. J., Devilee, P., van der Luijt, R. B., van Cronenburg, T. C. T. E. F., & 23 othersWevers, M. R., Mensenkamp, A. R., Ausems, M. G. E. M., Koudijs, M. J., Meijers-Heijboer, H. E. J., van Os, T. A. M., van Engelen, K., Gille, J. J. P., Gomez-Garcia, E. B., Blok, M. J., de Boer, M., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., van den Broek, E. C., Hollema, H., Smit, V. T. H. B. M., Howitt, B. E., Bosse, T. & HEBON Group, 15 Dec 2019, In: Clinical Cancer Research. 25, 24, p. 7517-7526 10 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  • Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

    Jori, B., Kamps, R., Xanthoulea, S., Delvoux, B., Blok, M. J., Van de Vijver, K. K., de Koning, B., Oei, F. T., Tops, C. M., Speel, E. J. M., Kruitwagen, R. F., Gomez-Garcia, E. B. & Romano, A., 1 Dec 2015, In: Oncotarget. 6, 38, p. 41108-41122

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    Open Access

  • Growth Pattern in Kabuki Syndrome with a KMT2D Mutation

    Schott, D. A., Blok, M. J., Gerver, W., Devriendt, K., Zimmermann, L. J. I. & Stumpel, C. T. R. M., Dec 2016, In: American Journal of Medical Genetics Part A. 170, 12, p. 3172-3179

    Research output: Contribution to journal › Article › Academic › peer-review

  • Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

    Im, K. M., Kirchhoff, T., Wang, X., 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., & 97 othersRubinstein, W. S., Hogervorst, F. B. L., Rookus, M. A., Collee, M. J., Hoogerbrugge, N., van Asperen, C. J., Meijers-Heijboer, H. E. J., van Roozendaal, C. E., 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. B., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Phelan, C. M., Narod, S. A., John, E. M., Hopper, J. L., Buys, 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. V., Morrison, P. J., Porteous, M. E., 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., Gomez Garcia, E., Blok, M. & Gold, B., Nov 2011, In: Human Genetics. 130, 5, p. 685-699

    Research output: Contribution to journal › Article › Academic › peer-review

  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    Phelan, C. M., Kuchenbaecker, K. B., Tyrer, J. P., Kar, S. P., Lawrenson, K., Winham, S. J., Dennis, J., Pirie, A., Riggan, M. J., Chornokur, G., Earp, M. A., Lyra, P. C., Lee, J. M., Coetzee, S., Beesley, J., McGuffog, L., Soucy, P., Dicks, E., Lee, A., Barrowdale, D., & 37 othersLecarpentier, J., Leslie, G., Aalfs, C. M., Aben, K. K. H., Adams, M., Adlard, J., Andrulis, I. L., Anton-Culver, H., Antonenkova, N., Aravantinos, G., Arnold, N., Arun, B. K., Arver, B., Azzollini, J., Balmana, J., Banerjee, S. N., Barjhoux, L., Barkardottir, R. B., Bean, Y., Beckmann, M. W., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Bernardini, M. Q., Birrer, M. J., Bjorge, L., Black, A., Blankstein, K., Blok, M. J., Bodelon, C., AOCS Study Group, EMEMBRACE Study, GEMO Study Collaborators, HEBON Study, KConFab Investigators, OPAL Study Grp & Pujol, P., May 2017, In: Nature Genetics. 49, 5, p. 680-691 12 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Impact of two functional progesterone receptor polymorphisms (PRP): +331G/A and PROGINS on the cancer risks in familial breast/ovarian cancer

    Romano, A., Baars, H., Martens, R. X., Brandao, R. D., Detisch, Y., Jongen, E., Blok, M. J., Lindsey, P. J., Fischer, D. C. & Gomez-Garcia, E. B., 1 Jan 2007, In: The Open Cancer Journal. 1, p. 1-8

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

    Burnichon, N., Cascon, A., Schiavi, F., Morales, N. P., Comino-Mendez, I., Abermil, N., Inglada-Perez, L., de Cubas, A. A., Amar, L., Barontini, M., de Quiros, S. B., Bertherat, J., Bignon, Y-J., Blok, M. J., Bobisse, S., Borrego, S., Castellano, M., Chanson, P., Chiara, M-D., Corssmit, E. P. M., & 41 othersGiacche, M., de Krijger, R. R., Ercolino, T., Girerd, X., Gomez-Garcia, E. B., Gomez-Grana, A., Guilhem, I., Hes, F. J., Honrado, E., Korpershoek, E., Lenders, J. W. M., Leton, R., Mensenkamp, A. R., Merlo, A., Mori, L., Murat, A., Pierre, P., Plouin, P-F., Prodanov, T., Quesada-Chameco, M., Qin, N., Rapizzi, E., Raymond, V., Reisch, N., Roncador, G., Ruiz-Ferrer, M., Schillo, F., Stegmann, A. P. A., Suarez, C., Taschin, E., Timmers, H. J. L. M., Tops, C. M. J., Urioste, M., Beuschlein, F., Pacak, K., Mannelli, M., Dahia, P. L. M., Opocher, G., Eisenhofer, G., Gimenez-Roqueplo, A-P. & Robledo, M., 15 May 2012, In: Clinical Cancer Research. 18, 10, p. 2828-2837

    Research output: Contribution to journal › Article › Academic › peer-review

  • MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

    Paulussen, A. D. C., Stegmann, A. P. A., Blok, M. J., Tserpelis, D., Posma-Velter, C., Detisch, Y., Smeets, E. E. J. G. L., Wagemans, A. M. A., Schrander, J. J. P., van den Boogaard, M. J. H., van der Smagt, J. J., van Haeringen, A., Stolte-Dijkstra, I., Kerstjens-Frederikse, W. S., Mancini, G. M. S., Wessels, M. W., Hennekam, R. C. M., Vreeburg, M., Geraedts, J., de Ravel, T., & 4 othersFryns, J-P., Smeets, H. J. T., Devriendt, K. & Schrander-Stumpel, C. T. R. M., Feb 2011, In: Human Mutation. 32, 2, p. E2018-E2025

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access

  • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S-H., Thomassen, M., Weitzel, J. N., Chan, T. L., Fergus, F. J., Goldgar, D. E., Kruse, T. A., Edenir, E. I., Park, S. K., Torres, D., van Rensburg, E. J., & 31 othersMcGuffog, L., Parsons, M. T., Leslie, G., Aalfs, C. M., Abugattas, J., Adlard, J., Agata, S., Aittomaki, K., Andrews, L., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Asseryanis, E., Auerbach, L., Azzollini, J., Balmana, J., Barile, M., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berger, A., Berger, R., Blanco, A. M., Blazer, K. R., Blok, M. J., Bonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C. & EMBRACE; GEMO Study Collaborators; HEBON; KConFab Investigators, 1 May 2018, In: Human Mutation. 39, 5, p. 593-620 28 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  • Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

    Fackenthal, J. D., Yoshimatsu, T., Zhang, B., de Garibay, G. R., Colombo, M., De Vecchi, G., Ayoub, S. C., Lal, K., Olopade, O. I., Vega, A., Santamarina, M., Blanco, A., Wappenschmidt, B., Becker, A., Houdayer, C., Walker, L. C., Lopez-Perolio, I., Thomassen, M., Parsons, M., Whiley, P., & 11 othersBlok, M. J., Dias Brandão, R., Tserpelis, D., Baralle, D., Montalban, G., Gutierrez-Enriquez, S., Diez, O., Lazaro, C., Spurdle, A. B., Radice, P. & de la Hoya, M., Aug 2016, In: Journal of Medical Genetics. 53, 8, p. 548-558

    Research output: Contribution to journal › Article › Academic › peer-review

  • No evidence to support an association of PER3 clock gene polymorphism with ADHD-related idiopathic chronic sleep onset insomnia

    van der Heijden, K. B., Blok, M. J., Spee, K., Archer, S. N., Smits, M. G., Gunning, B. & Curfs, L. M. G., 1 Jan 2005, In: Biological Rhythm Research. 36, p. 381-388

    Research output: Contribution to journal › Article › Academic › peer-review

  • Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

    Weren, R. D. A., Mensenkamp, A. R., Simons, M., Eijkelenboom, A., Sie, A. S., Ouchene, H., van Asseldonk, M., Gomez-Garcia, E. B., Blok, M. J., de Hullu, J. A., Nelen, M. R., Hoischen, A., Bulten, J., Tops, B. B. J., Hoogerbrugge, N. & Ligtenberg, M. J. L., Feb 2017, In: Human Mutation. 38, 2, p. 226-235 10 p.

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    Open Access

  • Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

    Schrijver, L. H., Olsson, H., Phillips, K-A., Terry, M. B., Goldgar, D. E., Kast, K., Engel, C., Mooij, T. M., Adlard, J., Barrowdale, D., Davidson, R., Eeles, R., Ellis, S., Evans, D. G., Frost, D., Izatt, L., Porteous, M. E., Side, L. E., Walker, L., Berthet, P., & 36 othersBonadona, V. E., Leroux, D., Mouret-Fourme, E., Venat-Bouvet, L., Buys, S. S., Southey, M. C., John, E. M., Chung, W. K., Daly, M. B., Bane, A., van Asperen, C. J., Garcia, E. B. G., Mourits, M. J. E., Roos-Blom, M-J., Friedlander, M. L., McLachlan, S-A., Singer, C. F., Foretova, L., Gerdes, A-M., Caldes, T., Olah, E., Jakubowska, A., Nogues, C., Andrieu, N., van Leeuwen, F. E., Schmidt, M. K., Wijnands, R., Ausems, M. G. E. M., Blok, M. J., EMBRACE, GENEPSO, Breast Cancer Family Registry (BCFR), HEBON, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), IBCCS & Rookus, M. A., Apr 2018, In: JNCI Cancer Spectrum. 2, 2, 14 p., 023.

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    Open Access

  • Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

    Schrijver, L. H., Antoniou, A. C., Olsson, H., Mooij, T. M., Roos-Blom, M-J., Azarang, L., Adlard, J., Ahmed, M., Barrowdale, D., Davidson, R., Donaldson, A., Eeles, R., Evans, D. G., Frost, D., Henderson, A., Izatt, L., Ong, K-R., Bonadona, V., Coupier, I., Faivre, L., & 34 othersFricker, J-P., Gesta, P., van Engelen, K., Jager, A., Menko, F. H., Mourits, M. J. E., Singer, C. F., Tan, Y. Y., Foretova, L., Navratilova, M., Schmutzler, R. K., Ellberg, C., Gerdes, A-M., Caldes, T., Simard, J., Olah, E., Jakubowska, A., Rantala, J., Osorio, A., Hopper, J. L., Phillips, K-A., Milne, R. L., Beth Terry, M., Noguès, C., Engel, C., Kast, K., Goldgar, D. E., van Leeuwen, F. E., Easton, D. F., Andrieu, N., Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study, Gomez Garcia, E., Blok, M. & Rookus, M. A., Jul 2021, In: American Journal of Obstetrics and Gynecology. 225, 1, p. 51.e1-51.e17 17 p.

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    Open Access

  • Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

    Koster, R., Brandao, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Oberstein, S. A. J. L., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., & 5 othersDerks, K. W. J., Brunner, H. G., van den Wijngaard, A., van Geel, M. & Blok, M. J., 15 Nov 2021, In: npj Genomic Medicine. 6, 1, 10 p., 95.

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  • PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

    Drusedau, M., Dreesen, J. C., Derks-Smeets, I., Coonen, E., van Golde, R., van Echten-Arends, J., Kastrop, P. M. M., Blok, M. J., Gomez-Garcia, E., Geraedts, J. P., Smeets, H. J., de Die-Smulders, C. E. & Paulussen, A. D., Dec 2013, In: European Journal of Human Genetics. 21, 12, p. 1361-1368

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  • Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Barnes, D. R., Rookus, M. A., McGuffog, L., Leslie, G., Mooij, T. M., Dennis, J., Mavaddat, N., Adlard, J., Ahmed, M., Aittomaki, K., Andrieu, N., Andrulis, I. L., Arnold, N., Arun, B. K., Azzollini, J., Balmana, J., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berthet, P., & 35 othersBialkowska, K., Blanco, A. M., Blok, M. J., Bonanni, B., Boonen, S. E., Borg, A., Bozsik, A., Bradbury, A. R., Brennan, P., Brewer, C., Brunet, J., Buys, S. S., Caldes, T., Caligo, M. A., Campbell, I., Christensen, L. L., Chung, W. K., Claes, K. B. M., Colas, C., Collonge-Rame, M-A., Cook, J., Daly, M. B., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Devilee, P., Diez, O., Ding, Y. C., Domchek, S. M., GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2, Oct 2020, In: Genetics in Medicine. 22, 10, p. 1653-1666 14 p.

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    Open Access

  • Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients

    Wieme, G., Kral, J., Rosseel, T., Zemankova, P., Parton, B., Vocka, M., Van Heetvelde, M., Kleiblova, P., Blaumeiser, B., Soukupova, J., van den Ende, J., Nehasil, P., Tejpar, S., Borecka, M., Garcia, E. B. G., Blok, M. J., Safarikova, M., Kalousova, M., Geboes, K., De Putter, R., & 5 othersPoppe, B., De Leeneer, K., Kleibl, Z., Janatova, M. & Claes, K. B. M., 1 Sept 2021, In: Cancers. 13, 17, 15 p., 4430.

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    Open Access