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Research Output 2003 2019

2019

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

Qian, F., Wang, S., Mitchell, J., McGuffog, L., Barrowdale, D., Leslie, G., Oosterwijk, J. C., Chung, W. K., Evans, D. G., Engel, C., Kast, K., Aalfs, C. M., Adank, M. A., Adlard, J., Agnarsson, B. A., Aittomaki, K., Alducci, E., Andrulis, I. L., Arun, B. K., Ausems, M. G. E. M. & 30 others, Azzollini, J., Barouk-Simonet, E., Barwell, J., Belotti, M., Benitez, J., Berger, A., Borg, A., Bradbury, A. R., Brunet, J., Buys, S. S., Caldes, T., Caligo, M. A., Campbell, I., Caputo, S. M., Chiquette, J., Claes, K. B. M., Collee, J. M., Couch, F. J., Coupier, I., Daly, M. B., Davidson, R., Diez, O., Domchek, S. M., Donaldson, A., Dorfling, C. M., Eeles, R., Feliubadalo, L., Foretova, L., Fowler, J. & Gomez Garcia, E. B., Apr 2019, In : Journal of the National Cancer Institute. 111, 4, p. 350-364 15 p., 132.

Research output: Contribution to journalArticleAcademicpeer-review

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadalo, L., Aalfs, C. M., Agata, S., Aittomaki, K., Alducci, E., Concepcion Alonso-Cerezo, M., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmana, J., Barbieri, E., Bartram, C. R., Blanco, A., Bluemcke, B. & 31 others, 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., de la Hoya, M., Dean, M., Debatin, I., Del Valle, J., Janssen, L. A. & Gomez Garcia, E., Sep 2019, In : Human Mutation. 40, 9, p. 1557-1578 22 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Gomez Garcia, E., 16 Jul 2019, In : British Journal of Cancer. 121, 2, p. 180-192 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect

ten Broeke, S. W., Rodriguez-Girondo, M., Suerink, M., Aretz, S., Bernstein, I., Capella, G., Engel, C., Gomez-Garcia, E. B., van Hest, L. P., Doeberitz, M. V. K., Lagerstedt-Robinson, K., Letteboer, T. G. W., Moller, P., van Os, T. A., Pineda, M., Rahner, N., Olderode-Berends, M. J. W., von Salome, J., Schackert, H. K., Spruijt, L. & 4 others, Steinke-Lange, V., Wagner, A., Tops, C. M. J. & Nielsen, M., Jun 2019, In : Cancer Epidemiology Biomarkers & Prevention. 28, 6, p. 1010-1014 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

2018

Cancer Risks for PMS2-Associated Lynch Syndrome

ten Broeke, S. W., van der Klift, H. M., Tops, C. M. J., Aretz, S., Bernstein, I., Buchanan, D. D., de la Chapelle, A., Capella, G., Clendenning, M., Engel, C., Gallinger, S., Gomez Garcia, E., Figueiredo, J. C., Haile, R., Hampel, H. L., Hopper, J. L., Hoogerbrugge, N., Doeberitz, M. V. K., Le Marchand, L., Letteboer, T. G. W. & 28 others, Jenkins, M. A., Lindblom, A., Lindor, N. M., Mensenkamp, A. R., Moller, P., Newcomb, P. A., van Os, T. A. M., Pearlman, R., Pineda, M., Rahner, N., Redeker, E. J. W., Olderode-Berends, M. J. W., Rosty, C., Schackert, H. K., Scott, R., Senter, L., Spruijt, L., Steinke-Lange, V., Suerink, M., Thibodeau, S., Vos, Y. J., Wagner, A., Winship, I., Hes, F. J., Vasen, H. F. A., Wijnen, J. T., Nielsen, M. & Win, A. K., 10 Oct 2018, In : Journal of Clinical Oncology. 36, 29, p. 2961-2968 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

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 others, Naldi, N., Puzzo, M., Sini, M. C., Tedaldi, G., Tibiletti, M. G., Varesco, L., De Nicolo, A., Blok, M., Gomez Garcia, E., 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 journalArticleAcademicpeer-review

Increasing awareness and knowledge of lifestyle recommendations for cancer prevention in Lynch syndrome carriers: Randomized controlled trial

Vrieling, A., Visser, A., Hoedjes, M., Hurks, M., Garcia, E. G., Hoogerbrugge, N. & Kampman, E., 1 Jan 2018, In : Clinical Genetics. 93, 1, p. 67-77 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2

ten Broeke, S. W., van Bavel, T. C., Jansen, A. M. L., Gomez-Garcia, E., Hes, F. J., van Hest, L. P., Letteboer, T. G. W., Olderode-Berends, M. J. W., Ruano, D., Spruijt, L., Suerink, M., Tops, C. M., van Eijk, R., Morreau, H., van Wezel, T. & Nielsen, M., 1 Sep 2018, In : Gastroenterology. 155, 3, p. 844-851 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

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. & 30 others, Bonadona, 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., Gomez-Garcia, E. B. & Blok, M. J., Apr 2018, In : JNCI Cancer Spectrum. 2, 2, 14 p., 023.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

Derks-Smeets, I. A. P., Schrijver, L. H., de Die-Smulders, C. E. M., Tjan-Heijnen, V. C. G., van Golde, R. J. T., Smits, L. J., Caanen, B., van Asperen, C. J., Ausems, M., Collee, M., van Engelen, K., Kets, C. M., van der Kolk, L., Oosterwijk, J. C., van Os, T. A. M., Rookus, M. A., van Leeuwen, F. E. & Garcia, E. B., 1 Aug 2018, In : British Journal of Cancer. 119, 3, p. 357-363 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Professionals' knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer

Gietel-Habets, J. J. G., de Die-Smulders, C. E. M., Tjan-Heijnen, V. C. G., Derks-Smeets, I. A. P., van Golde, R., Gomez-Garcia, E. & van Osch, L. A. D. M., 1 Feb 2018, In : Reproductive Biomedicine Online. 36, 2, p. 137-144 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

Weren, R. D. A., van der Post, R. S., Vogelaar, I. P., van Krieken, J. H., Spruijt, L., Lubinski, J., Jakubowska, A., Teodorczyk, U., Aalfs, C. M., van Hest, L. P., Oliveira, C., Kamping, E. J., Schackert, H. K., Ranzani, G. N., Garcia, E. B. G., Hes, F. J., Holinski-Feder, E., Genuardi, M., Ausems, M. G. E. M., Sijmons, R. H. & 6 others, Wagner, A., van der Kolk, L. E., Cats, A., Bjornevoll, I., Hoogerbrugge, N. & Ligtenberg, M. J. L., 1 Oct 2018, In : Journal of Medical Genetics. 55, 10, p. 669-674 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

SNP association study in PMS2-associated Lynch syndrome

ten Broeke, S. W., Elsayed, F. A., Pagan, L., Olderode-Berends, M. J. W., Garcia, E. G., Gille, H. J. P., van Hest, L. P., Letteboer, T. G. W., van der Kolk, L. E., Mensenkamp, A. R., van Os, T. A., Spruijt, L., Redeker, B. J. W., Suerink, M., Vos, Y. J., Wagner, A., Wijnen, J. T., Steyerberg, E. W., Tops, C. M. J., van Wezel, T. & 1 others, Nielsen, M., 1 Oct 2018, In : Familial Cancer. 17, 4, p. 507-515 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Support needs of couples with hereditary breast and ovarian cancer during reproductive decision making

Gietel-Habets, J. J. G., de Die-Smulders, C. E. M., Derks-Smeets, I. A. P., Tibben, A., Tjan-Heijnen, V. C. G., van Golde, R., Gomez-Garcia, E. & van Osch, L. A. D. M., 1 Jul 2018, In : Psycho-Oncology. 27, 7, p. 1795-1801 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

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. O., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., Couch, F. & 20 others, Hallberg, E. J., van den Ouweland, A. M. W., Collee, M. J., Teugels, E., Adank, M. A., van der Luijt, R. B., 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., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & Garcia, E. G., 1 Jan 2018, In : Journal of Medical Genetics. 55, 1, p. 15-20 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Colombo, M., Lopez-Perolio, I., Meeks, H. D., Caleca, L., Parsons, M. T., Li, H., De Vecchi, G., Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E. B. G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A. Y., Varesco, L., Wappenschmidt, B., Bolla, M. K. & 30 others, Dennis, J., Michailidou, K., Wang, Q., Aittomaki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Beeghly-Fadel, A., Benitez, J., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Chang-Claude, J., Conroy, D. M., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Devilee, P., Dork, T., Eriksson, M., Fasching, P. A., Figueroa, J., Fletcher, O. & Flyger, H., 1 May 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2017

Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners

Gietel-Habets, J. J. G., de Die-Smulders, C. E. M., Derks-Smeets, I. A. P., Tibben, A., Tjan-Heijnen, V. C. G., van Golde, R., Gomez-Garcia, E., Kets, C. M. & van Osch, L. A. D. M., Mar 2017, In : Human Reproduction. 32, 3, p. 588-597 10 p.

Research output: Contribution to journalArticleAcademicpeer-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.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Vogelaar, I. P., van der Post, R. S., van Krieken, J. H. J. M., Spruijt, L., van Zelst-Stams, W. A. G., Kets, C. M., Lubinski, J., Jakubowska, A., Teodorczyk, U., Aalfs, C. M., van Hest, L. P., Pinheiro, H., Oliveira, C., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Lupski, J. R., de Ligt, J., Vissers, L. E. L. M., Hoischen, A. & 20 others, Gilissen, C., van de Vorst, M., Goeman, J. J., Schackert, H. K., Ranzani, G. N., Molinaro, V., Garcia, E. B. G., Hes, F. J., Holinski-Feder, E., Genuardi, M., Ausems, M. G. E. M., Sijmons, R. H., Wagner, A., van der Kolk, L. E., Bjornevoll, I., Hoberg-Vetti, H., van Kessel, A. G., Kuiper, R. P., Ligtenberg, M. J. L. & Hoogerbrugge, N., Nov 2017, In : European Journal of Human Genetics. 25, 11, p. 1246-1252 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2016

Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

Kerkhofs, C. H. H., Spurdle, A. B., Lindsey, P. J., Goldgar, D. E. & Gomez-Garcia, E. B., 30 Apr 2016, In : Hereditary Cancer in Clinical Practice. 14, 10.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
1 Citation (Scopus)

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

Ghorbanoghli, Z., Nieuwenhuis, M. H., Houwing-Duistermaat, J. J., Jagmohan-Changur, S., Hes, F. J., Tops, C. M., Wagner, A., Aalfs, C. M., Verhoef, S., Garcia, E. B. G., Sijmons, R. H., Menko, F. H., Letteboer, T. G., Hoogerbrugge, N., van Wezel, T., Vasen, H. F. A. & Wijnen, J. T., Oct 2016, In : Familial Cancer. 15, 4, p. 563-570

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

Jansen, A. M. L., van Wezel, T., van den Akker, B. E. W. M., Garcia, M. V., Ruano, D., Tops, C. M. J., Wagner, A., Letteboer, T. G. W., Gomez-Garcia, E. B., Devilee, P., Wijnen, J. T., Hes, F. J. & Morreau, H., Jul 2016, In : European Journal of Human Genetics. 24, 7, p. 1089-1092

Research output: Contribution to journalArticleAcademicpeer-review

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

van der Klift, H. M., Mensenkamp, A. R., Drost, M., Bik, E. C., Vos, Y. J., Gille, H. J. J. P., Redeker, B. E. J. W., Tiersma, Y., Zonneveld, J. B. M., Garcia, E. G., Letteboer, T. G. W., Olderode-Berends, M. J. W., van Hest, L. P., van Os, T. A., Verhoef, S., Wagner, A., van Asperen, C. J., ten Broeke, S. W., Hes, F. J., de Wind, N. & 5 others, Nielsen, M., Devilee, P., Ligtenberg, M. J. L., Wijnen, J. T. & Tops, C. M. J., Nov 2016, In : Human Mutation. 37, 11, p. 1162-1179

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

Suerink, M., van der Klift, H. M., ten Broeke, S. W., Dekkers, O. M., Bernstein, I., Capella Munar, G., Gomez Garcia, E., Hoogerbrugge, N., Letteboer, T. G. W., Menko, F. H., Lindblom, A., Mensenkamp, A., Moller, P., van Os, T. A., Rahner, N., Redeker, B. J. W., Olderode, M., Spruijt, L., Vos, Y. J., Wagner, A. & 6 others, Morreau, H., Hes, F. J., Vasen, H. F. A., Tops, C. M., Wijnen, J. T. & Nielsen, M., Apr 2016, In : Genetics in Medicine. 18, 4, p. 405-409

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients

Jansen, A. M. L., Geilenkirchen, M. A., van Wezel, T., Jagmohan-Changur, S. C., Ruano, D., van der Klift, H. M., van den Akker, B. E. W. M., Laros, J. F. J., van Galen, M., Wagner, A., Letteboer, T. G. W., Gomez-Garcia, E. B., Tops, C. M. J., Vasen, H. F., Devilee, P., Hes, F. J., Morreau, H. & Wijnen, J. T., 14 Jun 2016, In : PLOS ONE. 11, 6, e0157381.

Research output: Contribution to journalArticleAcademicpeer-review

2015
1 Citation (Scopus)

A white raven detected by imaging

Baur, L. H. B., Schreurs, W. M. J., van Leeuwen-Wintjes, H. R., Berendsen, C. L., Willems, R., Winkens, R. A. G., Vliegen, R., Theunissen, P. & Garcia, E. B. G., Jul 2015, In : Netherlands Heart Journal. 23, 7-8, p. 402-403

Research output: Contribution to journalArticleAcademicpeer-review

21 Citations (Scopus)

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance

Eccles, D. M., Mitchell, G., Monteiro, A. N. A., Schmutzler, R., Couch, F. J., Spurdle, A. B. & Gomez-Garcia, E. B., Oct 2015, In : Annals of Oncology. 26, 10, p. 2057-2065

Research output: Contribution to journalArticleAcademicpeer-review

24 Citations (Scopus)

Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction

Heemskerk-Gerritsen, B. A. M., Seynaeve, C., van Asperen, C. J., Ausems, M. G. E. M., Collee, J. M., van Doorn, H. C., Garcia, E. B. G., Kets, C. M., van Leeuwen, F. E., Meijers-Heijboer, H. E. J., Mourits, M. J. E., van Os, T. A. M., Vasen, H. F. A., Verhoef, S., Rookus, M. A. & Hooning, M. J., May 2015, In : Journal of the National Cancer Institute. 107, 5, djv033.

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation

Vogelaar, I. P., van der Post, R. S., van de Vosse, E., van Krieken, J. H. J. M., Hoogerbrugge, N., Ligtenberg, M. J. L. & Garcia, E. G., Mar 2015, In : Familial Cancer. 14, 1, p. 89-94

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

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

Research output: Contribution to journalArticleAcademicpeer-review

38 Citations (Scopus)

Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

ten Broeke, S. W., Brohet, R. M., Tops, C. M., van der Klift, H. M., Velthuizen, M. E., Bernstein, I., Capella Munar, G., Garcia, E. G., Hoogerbrugge, N., Letteboer, T. G. W., Menko, F. H., Lindblom, A., Mensenkamp, A. R., Moller, P., Van Os, T. A., Rahner, N., Redeker, B. J. W., Sijmons, R. H., Spruijt, L., Suerink, M. & 6 others, Vos, Y. J., Wagner, A., Hes, F. J., Vasen, H. F., Nielsen, M. & Wijnen, J. T., 1 Feb 2015, In : Journal of Clinical Oncology. 33, 4, p. 319-U172

Research output: Contribution to journalArticleAcademicpeer-review

2014
2 Citations (Scopus)

A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot study

Koeneman, M. M., Kruse, A-J., Sep, S. J. S., Gubbels, C. S., Slangen, B. F. M., van Gorp, T., Lopes, A., Gomez-Garcia, E. & Kruitwagen, R. F. P. M., Sep 2014, In : Familial Cancer. 13, 3, p. 469-475

Research output: Contribution to journalArticleAcademicpeer-review

24 Citations (Scopus)

Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

Brohet, R. M., Velthuizen, M. E., Hogervorst, F. B. L., Meijers-Heijboer, H. E. J., Seynaeve, C., Collee, M. J., Verhoef, S., Ausems, M. G. E. M., Hoogerbrugge, N., van Asperen, C. J., Garcia, E. G., Menko, F., Oosterwijk, J. C., Devilee, P., van't Veer, L. J., van Leeuwen, F. E., Easton, D. F., Rookus, M. A., Antoniou, A. C. & Resource, H., Feb 2014, In : Journal of Medical Genetics. 51, 2, p. 98-107

Research output: Contribution to journalArticleAcademicpeer-review

15 Citations (Scopus)

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

Hes, F. J., Ruano, D., Nieuwenhuis, M., Tops, C. M., Schrumpf, M., Nielsen, M., Huijts, P. E. A., Wijnen, J. T., Wagner, A., Gomez Garcia, E. B., Sijmons, R. H., Menko, F. H., Letteboer, T. G. W., Hoogerbrugge, N., Harryvan, J., Kampman, E., Morreau, H., Vasen, H. F. A. & van Wezel, T., Jan 2014, In : Journal of Medical Genetics. 51, 1, p. 55-60

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)

Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Vos, J. R., Teixeira, N., van der Kolk, D. M., Mourits, M. J. E., Rookus, M. A., van Leeuwen, F. E., Collee, M., van Asperen, C. J., Mensenkamp, A. R., Ausems, M. G. E. M., van Os, T. A. M., Meijers-Heijboer, H. E. J., Gomez-Garcia, E. B., Vasen, H. F., Brohet, R. M., van der Hout, A. H., Jansen, L., Oosterwijk, J. C. & de Bock, G. H., Nov 2014, In : Cancer Epidemiology Biomarkers & Prevention. 23, 11, p. 2482-2491

Research output: Contribution to journalArticleAcademicpeer-review

2013
8 Citations (Scopus)

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

Research output: Contribution to journalArticleAcademicpeer-review

The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters

Vos, J., van Asperen, C. J., Oosterwijk, J. C., Menko, F. H., Collee, M. J., Garcia, E. G. & Tibben, A., Apr 2013, In : Psycho-Oncology. 22, 4, p. 902-910

Research output: Contribution to journalArticleAcademicpeer-review

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Dias Brandão, R., Blok, R. M. J. & Gomez Garcia, E., Aug 2012, In : Journal of Medical Genetics. 49, 8, p. 525-532

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

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 journalArticleAcademicpeer-review

13 Citations (Scopus)

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 others, Poppe, B. & Claes, K., May 2012, In : Breast Cancer Research and Treatment. 133, 1, p. 393-398

Research output: Contribution to journalArticleAcademicpeer-review

Exploring the short-term impact of DNA-testing in breast cancer patients: The counselees' perception matters, but the actual BRCA1/2 result does not

Vos, J., Oosterwijk, J. C., Gomez-Garcia, E., Menko, F. H., Collee, M. J., van Asperen, C. J., Jansen, A. M., Stiggelbout, A. M. & Tibben, A., Feb 2012, In : Patient Education and Counseling. 86, 2, p. 239-251

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)

Is colorectal surveillance indicated in patients with PTEN mutations?

Nieuwenhuis, M. H., Kets, C. M., Murphy-Ryan, M., Colas, C., Moller, P., Hes, F. J., Hodgson, S. V., Olderode-Berends, M. J. W., Aretz, S., Heinimann, K., Gomez Garcia, E. B., Douglas, F., Spigelman, A., Timshel, S., Lindor, N. M. & Vasen, H. F. A., Sep 2012, In : Colorectal Disease. 14, 9, p. e562-e566

Research output: Contribution to journalArticleAcademicpeer-review

106 Citations (Scopus)

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 others, Giacche, 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 journalArticleAcademicpeer-review

Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result

Vos, J., Gomez-Garcia, E., Oosterwijk, J. C., Menko, F. H., Stoel, R. D., van Asperen, C. J., Jansen, A. M., Stiggelbout, A. M. & Tibben, A., Jan 2012, In : Psycho-Oncology. 21, 1, p. 29-42

Research output: Contribution to journalArticleAcademicpeer-review

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Verhagen, M. M. M., Last, J. I., Hogervorst, F. B. L., Smeets, D. F. C. M., Roeleveld, N., Verheijen, F., Catsman-Berrevoets, C. E., Wulffraat, N. M., Cobben, J. M., Hiel, J., Brunt, E. R., Peeters, E. A. J., Gomez Garcia, E. B., van der Knaap, M. S., Lincke, C. R., Laan, L. A. E. M., Tijssen, M. A. J., van Rijn, M. A., Majoor-Krakauer, D., Visser, M. & 13 others, van 't Veer, L. J., Kleijer, W. J., van de Warrenburg, B. P. C., Warris, A., de Groot, I. J. M., de Groot, R., Broeks, A., Preijers, F., Kremer, B. H. P. H., Weemaes, C. M. R., Taylor, M. A. M. R., van Deuren, M. & Willemsen, M. A. A. P., Mar 2012, In : Human Mutation. 33, 3, p. 561-571

Research output: Contribution to journalArticleAcademicpeer-review

Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome

Engel, C., Loeffler, M., Steinke, V., Rahner, N., Holinski-Feder, E., Dietmaier, W., Schackert, H. K., Goergens, H., Doeberitz, M. V. K., Goecke, T. O., Schmiegel, W., Buettner, R., Moeslein, G., Letteboer, T. G. W., Garcia, E. G., Hes, F. J., Hoogerbrugge, N., Menko, F. H., van Os, T. A. M., Sijmons, R. H. & 4 others, Wagner, A., Kluijt, I., Propping, P. & Vasen, H. F. A., 10 Dec 2012, In : Journal of Clinical Oncology. 30, 35, p. 4409-4415

Research output: Contribution to journalArticleAcademicpeer-review

2011

A counselee-oriented perspective on risk communication in genetic counseling: Explaining the inaccuracy of the counselees' risk perception shortly after BRCA1/2 test result disclosure

Vos, J., Stiggelbout, A. M., Oosterwijk, J. C., Gomez-Garcia, E., Menko, F., Collee, M. J., van Asperen, C. J. & Tibben, A., Sep 2011, In : Genetics in Medicine. 13, 9, p. 800-811

Research output: Contribution to journalArticleAcademicpeer-review