Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers
Jansen, Anne Ml, van Wezel, Tom, van den Akker, Brendy Ewm, Ventayol Garcia, Marina, Ruano, Dina, Tops, Carli Mj, Wagner, Anja, Letteboer, Tom Gw, Gómez-García, Encarna B, Devilee, Peter, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences
LAMMENS, Chantal R. M, AARONSON, Neil K, KLUIJT, Irma, NAGTEGAAL, Tanja, VERHOEF, Senno, BLEIKER, Eveline M. A, WAGNER, Anja, SIJMONS, Rolf H, AUSEMS, Margreet G. E. M, VRIENDS, Annette H. J. T, RUIJS, Mariëlle W. G, VAN OS, Theo A. M, SPRUIJT, Liesbeth, GOMEZ GARCIA, Encarna B
Published in Journal of clinical oncology (20.06.2010)
Published in Journal of clinical oncology (20.06.2010)
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Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers
Derks-Smeets, Inge A. P., Schrijver, Lieske H., de Die-Smulders, Christine E. M., Tjan-Heijnen, Vivianne C. G., van Golde, Ron J. T., Smits, Luc J., Caanen, Beppy, van Asperen, Christi J., Ausems, Margreet, Collée, Margriet, van Engelen, Klaartje, Kets, C. Marleen, van der Kolk, Lizet, Oosterwijk, Jan C., van Os, Theo A. M., Rookus, Matti A., van Leeuwen, Flora E., Gómez García, Encarna B.
Published in British journal of cancer (01.08.2018)
Published in British journal of cancer (01.08.2018)
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Patients With an Unclassified Genetic Variant in the BRCA1 or BRCA2 Genes Show Different Clinical Features From Those With a Mutation
Gómez-García, Encarna B, Ambergen, Ton, Blok, Marinus J, van den Wijngaard, Arthur
Published in Journal of clinical oncology (01.04.2005)
Published in Journal of clinical oncology (01.04.2005)
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Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
Hes, Frederik J, Ruano, Dina, Nieuwenhuis, Marry, Tops, Carli M, Schrumpf, Melanie, Nielsen, Maartje, Huijts, Petra E A, Wijnen, Juul T, Wagner, Anja, García, Encarna B Gómez, Sijmons, Rolf H, Menko, Fred H, Letteboer, Tom G W, Hoogerbrugge, Nicoline, Harryvan, Jan, Kampman, Ellen, Morreau, Hans, Vasen, Hans F A, van Wezel, Tom
Published in Journal of medical genetics (01.01.2014)
Published in Journal of medical genetics (01.01.2014)
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High von willebrand factor levels increase the risk of first ischemic stroke : Influence of ADAMTS13, inflammation, and genetic variability
BONGERS, Tamara N, DE MAAT, Moniek P. M, VAN GOOR, Mary-Lou P. J, BHAGWANBALI, Vinod, VAN VLIET, Huub H. D. M, GOMEZ GARCIA, Encarna B, DIPPEL, Diederik W. J, LEEBEEK, Frank W. G
Published in Stroke (1970) (01.11.2006)
Published in Stroke (1970) (01.11.2006)
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Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: A national cohort study
Saadatmand, Sepideh, Vos, Janet R., Hooning, Maartje J., Oosterwijk, Jan C., Koppert, Linetta B., de Bock, Geertruida H., Ausems, Margreet G., van Asperen, Christi J., Aalfs, Cora M., Gómez Garcia, Encarna B., Meijers‐Heijboer, Hanne, Hoogerbrugge, Nicoline, Piek, Marianne, Seynaeve, Caroline, Verhoef, Cornelis, Rookus, Matti, Tilanus‐Linthorst, Madeleine M.
Published in International journal of cancer (15.12.2014)
Published in International journal of cancer (15.12.2014)
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Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients
Jansen, Anne M L, Geilenkirchen, Marije A, van Wezel, Tom, Jagmohan-Changur, Shantie C, Ruano, Dina, van der Klift, Heleen M, van den Akker, Brendy E W M, Laros, Jeroen F J, van Galen, Michiel, Wagner, Anja, Letteboer, Tom G W, Gómez-García, Encarna B, Tops, Carli M J, Vasen, Hans F, Devilee, Peter, Hes, Frederik J, Morreau, Hans, Wijnen, Juul T
Published in PloS one (01.06.2016)
Published in PloS one (01.06.2016)
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Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases
Lakeman, Inge M M, Rodríguez-Girondo, Mar D M, Lee, Andrew, Celosse, Nandi, Braspenning, Merel E, van Engelen, Klaartje, van de Beek, Irma, van der Hout, Annemiek H, Gómez García, Encarna B, Mensenkamp, Arjen R, Ausems, Margreet G E M, Hooning, Maartje J, Adank, Muriel A, Hollestelle, Antoinette, Schmidt, Marjanka K, van Asperen, Christi J, Devilee, Peter
Published in Journal of medical genetics (01.04.2023)
Published in Journal of medical genetics (01.04.2023)
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Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1
van der Post, Rachel S, Vogelaar, Ingrid P, Manders, Peggy, van der Kolk, Lizet E, Cats, Annemieke, van Hest, Liselotte P, Sijmons, Rolf, Aalfs, Cora M, Ausems, Margreet G.E.M, Gómez García, Encarna B, Wagner, Anja, Hes, Frederik J, Arts, Neeltje, Mensenkamp, Arjen R, van Krieken, J. Han, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2015)
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2015)
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Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas
Weren, Robbert D.A., Mensenkamp, Arjen R., Simons, Michiel, Eijkelenboom, Astrid, Sie, Aisha S., Ouchene, Hicham, Asseldonk, Monique, Gomez‐Garcia, Encarna B., Blok, Marinus J., Hullu, Joanne A., Nelen, Marcel R., Hoischen, Alexander, Bulten, Johan, Tops, Bastiaan B.J., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L.
Published in Human mutation (01.02.2017)
Published in Human mutation (01.02.2017)
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Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers
Baglietto, Laura, Lindor, Noralane M., Dowty, James G., White, Darren M., Wagner, Anja, Gomez Garcia, Encarna B., Vriends, Annette H. J. T., Cartwright, Nicola R., Barnetson, Rebecca A., Farrington, Susan M., Tenesa, Albert, Hampel, Heather, Buchanan, Daniel, Arnold, Sven, Young, Joanne, Walsh, Michael D., Jass, Jeremy, Macrae, Finlay, Antill, Yoland, Winship, Ingrid M., Giles, Graham G., Goldblatt, Jack, Parry, Susan, Suthers, Graeme, Leggett, Barbara, Butz, Malinda, Aronson, Melyssa, Poynter, Jenny N., Baron, John A., Le Marchand, Loic, Haile, Robert, Gallinger, Steve, Hopper, John L., Potter, John, de la Chapelle, Albert, Vasen, Hans F., Dunlop, Malcolm G., Thibodeau, Stephen N., Jenkins, Mark A.
Published in JNCI : Journal of the National Cancer Institute (03.02.2010)
Published in JNCI : Journal of the National Cancer Institute (03.02.2010)
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Journal Article
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers
van der Werf-’t Lam, Anne-Sophie, Terlouw, Diantha, Tops, Carli M., van Kan, Merel S., van Hest, Liselotte P., Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G.W., de Jong, Mirjam M., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet E., Gomez Garcia, Encarna B., de Wind, Niels, van Wezel, J. Tom, Morreau, Hans, Suerink, Manon, Nielsen, Maartje
Published in Modern pathology (01.09.2023)
Published in Modern pathology (01.09.2023)
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Journal Article
Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome
Werf‐'t Lam, Anne‐Sophie, Rodriguez‐Girondo, Mar, Villasmil, Mandy, Tops, Carli M., Hest, Liselotte, Gille, Hans J. P., Duijkers, Floor A. M., Wagner, Anja, Eikenboom, Ellis, Letteboer, Tom G. W., Jong, Mirjam M., Bajwa‐ten Broeke, Sanne W., Bleeker, Fonnet, Gomez Garcia, Encarna B., Dominguez‐Valentin, Mev, Møller, Pal, Suerink, Manon, Nielsen, Maartje
Published in Genes chromosomes & cancer (01.05.2024)
Published in Genes chromosomes & cancer (01.05.2024)
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TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Ruijs, Marielle W G, Verhoef, Senno, Rookus, Matti A, Pruntel, Roelof, van der Hout, Annemarie H, Hogervorst, Frans B L, Kluijt, I, Sijmons, Rolf H, Aalfs, Cora M, Wagner, Anja, Ausems, Margreet G E M, Hoogerbrugge, Nicoline, van Asperen, Christi J, Gomez Garcia, Encarna B, Meijers-Heijboer, Hanne, ten Kate, Leo P, Menko, Fred H, van 't Veer, Laura J
Published in Journal of medical genetics (01.06.2010)
Published in Journal of medical genetics (01.06.2010)
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Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study
Heemskerk-Gerritsen, Bernadette A. M, Hollestelle, Antoinette, van Asperen, Christi J, van den Beek, Irma, van Driel, Willemien J, van Engelen, Klaartje, Gómez Garcia, Encarna B, de Hullu, Joanne A, Koudijs, Marco J, Mourits, Marian J. E, Hooning, Maartje J, Boere, Ingrid A
Published in PloS one (22.09.2022)
Published in PloS one (22.09.2022)
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Journal Article
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers
Stroot, Iris A.S., Bart, Joost, Hollema, Harry, Jalving, Mathilde, Wagner, Marise M., Yigit, Refika, van Doorn, Helena C., de Hullu, Joanne A., Gaarenstroom, Katja N., van Beurden, Marc, van Lonkhuijzen, Luc R.C.W., Slangen, Brigitte F.M., Zweemer, Ronald P., Gómez García, Encarna B., Ausems, Margreet G.E.M., Boere, Ingrid A., van Hest, Liselotte P., Duijkers, Floor A.M., van Asperen, Christi J., Schmidt, Marjanka K., Wevers, Marijke R., Ruijs, Marielle W.G., Devilee, Peter, Collée, J. Margriet, HEBON investigators, de Bock, Geertruida H., Mourits, Marian J.E.
Published in Gynecologic oncology (01.08.2024)
Published in Gynecologic oncology (01.08.2024)
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High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors
Stroot, Iris A S, Brouwer, Jan, Bart, Joost, Hollema, Harry, Stommel-Jenner, Denise J, Wagner, Marise M, van Doorn, Helena C, de Hullu, Joanne A, Gaarenstroom, Katja N, Beurden, Marc, van Lonkhuijzen, Luc R C W, Slangen, Brigitte F M, Zweemer, Ronald P, Gómez Garcia, Encarna B, Ausems, Margreet G E M, Boere, Ingrid A, van Engelen, Klaartje, van Asperen, Christi J, Schmidt, Marjanka K, Wevers, Marijke R, de Bock, Geertruida H, Mourits, Marian J E
Published in Journal of clinical oncology (10.05.2023)
Published in Journal of clinical oncology (10.05.2023)
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