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

por Brandão, Rita D., Tserpelis, Demis, Gómez García, Encarna, Blok, Marinus J.
Publicado 2012

Attitude towards pre-implantation genetic diagnosis for hereditary cancer

por Lammens, Chantal, Bleiker, Eveline, Aaronson, Neil, Vriends, Annette, Ausems, Margreet, Jansweijer, Maaike, Wagner, Anja, Sijmons, Rolf, van den Ouweland, Ans, van der Luijt, Rob, Spruijt, Liesbeth, Gómez García, Encarna, Ruijs, Mariëlle, Verhoef, Senno
Publicado 2009

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

por 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
Publicado 2016

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

por Jóri, Balazs, Kamps, Rick, Xanthoulea, Sofia, Delvoux, Bert, Blok, Marinus J., Van de Vijver, Koen K., de Koning, Bart, Oei, Felicia Trups, Tops, Carli M., Speel, Ernst J. M., Kruitwagen, Roy F., Gomez-Garcia, Encarna B., Romano, Andrea
Publicado 2015

Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study

por 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.
Publicado 2022

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

por Weren, Robbert D.A., Mensenkamp, Arjen R., Simons, Michiel, Eijkelenboom, Astrid, Sie, Aisha S., Ouchene, Hicham, van Asseldonk, Monique, Gomez‐Garcia, Encarna B., Blok, Marinus J., de Hullu, Joanne A., Nelen, Marcel R., Hoischen, Alexander, Bulten, Johan, Tops, Bastiaan B.J., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L.
Publicado 2016

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

por 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.
Publicado 2016

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

por Wieme, Greet, Kral, Jan, Rosseel, Toon, Zemankova, Petra, Parton, Bram, Vocka, Michal, Van Heetvelde, Mattias, Kleiblova, Petra, Blaumeiser, Bettina, Soukupova, Jana, van den Ende, Jenneke, Nehasil, Petr, Tejpar, Sabine, Borecka, Marianna, Gómez García, Encarna B., Blok, Marinus J., Safarikova, Marketa, Kalousova, Marta, Geboes, Karen, De Putter, Robin, Poppe, Bruce, De Leeneer, Kim, Kleibl, Zdenek, Janatova, Marketa, Claes, Kathleen B. M.
Publicado 2021

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

por Gómez García, Encarna B, Oosterwijk, Jan C, Timmermans, Maarten, van Asperen, Christi J, Hogervorst, Frans BL, Hoogerbrugge, Nicoline, Oldenburg, Rogier, Verhoef, Senno, Dommering, Charlotte J, Ausems, Margreet GEM, van Os, Theo AM, van der Hout, Annemarie H, Ligtenberg, Marjolijn, van den Ouweland, Ans, van der Luijt, Rob B, Wijnen, Juul T, Gille, Jan JP, Lindsey, Patrick J, Devilee, Peter, Blok, Marinus J, Vreeswijk, Maaike PG
Publicado 2009

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

por Mohammadi, Leila, Vreeswijk, Maaike P, Oldenburg, Rogier, van den Ouweland, Ans, Oosterwijk, Jan C, van der Hout, Annemarie H, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn, Ausems, Margreet G, van der Luijt, Rob B, Dommering, Charlotte J, Gille, Johan J, Verhoef, Senno, Hogervorst, Frans B, van Os, Theo A, Gómez García, Encarna, Blok, Marinus J, Wijnen, Juul T, Helmer, Quinta, Devilee, Peter, van Asperen, Christi J, van Houwelingen, Hans C
Publicado 2009

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

por 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.
Publicado 2018

Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study

por de Jonge, Marthe M, de Kroon, Cornelis D, Jenner, Denise J, Oosting, Jan, de Hullu, Joanne A, Mourits, Marian J E, Gómez Garcia, Encarna B, Ausems, Margreet G E M, Margriet Collée, J, van Engelen, Klaartje, van de Beek, Irma, Smit, Vincent T H B M, Rookus, Matti A, de Bock, Geertruida H, van Leeuwen, Flora E, Bosse, Tjalling, Dekkers, Olaf M, van Asperen, Christi J
Publicado 2021

High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors

por 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.
Publicado 2023

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

por Weren, Robbert D A, van der Post, Rachel S, Vogelaar, Ingrid P, van Krieken, J Han, Spruijt, Liesbeth, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M, van Hest, Liselotte P, Oliveira, Carla, Kamping, Eveline J, Schackert, Hans K, Ranzani, Guglielmina N, Gómez García, Encarna B, Hes, Frederik J, Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G E M, Sijmons, Rolf H, Wagner, Anja, van der Kolk, Lizet E, Cats, Annemieke, Bjørnevoll, Inga, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J L
Publicado 2018

Long-Term Morbidity and Health After Early Menopause Due to Oophorectomy in Women at Increased Risk of Ovarian Cancer: Protocol for a Nationwide Cross-Sectional Study With Prospect...

por Terra, Lara, Hooning, Maartje J, Heemskerk-Gerritsen, Bernadette A M, van Beurden, Marc, Roeters van Lennep, Jeanine E, van Doorn, Helena C, de Hullu, Joanne A, Mom, Constantijne, van Dorst, Eleonora B L, Mourits, Marian J E, Slangen, Brigitte F M, Gaarenstroom, Katja N, Zillikens, M Carola, Leiner, Tim, van der Kolk, Lizet, Collee, Margriet, Wevers, Marijke, Ausems, Margreet G E M, van Engelen, Klaartje, Berger, Lieke PV, van Asperen, Christi J, Gomez-Garcia, Encarna B, van de Beek, Irma, Rookus, Matti A, Hauptmann, Michael, Bleiker, Eveline M, Schagen, Sanne B, Aaronson, Neil K, Maas, Angela H E M, van Leeuwen, Flora E
Publicado 2021

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

por Vogelaar, Ingrid P, van der Post, Rachel S, van Krieken, J Han JM, Spruijt, Liesbeth, van Zelst-Stams, Wendy AG, Kets, C Marleen, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M, van Hest, Liselotte P, Pinheiro, Hugo, Oliveira, Carla, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, de Ligt, Joep, Vissers, Lisenka E L M, Hoischen, Alexander, Gilissen, Christian, van de Vorst, Maartje, Goeman, Jelle J, Schackert, Hans K, Ranzani, Guglielmina N, Molinaro, Valeria, Gómez García, Encarna B, Hes, Frederik J, Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G E M, Sijmons, Rolf H, Wagner, Anja, van der Kolk, Lizet E, Bjørnevoll, Inga, Høberg-Vetti, Hildegunn, van Kessel, Ad Geurts, Kuiper, Roland P, Ligtenberg, Marjolijn J L, Hoogerbrugge, Nicoline
Publicado 2017

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

por Schrijver, Lieske H, Olsson, Håkan, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David E, Kast, Karin, Engel, Christoph, Mooij, Thea M, Adlard, Julian, Barrowdale, Daniel, Davidson, Rosemarie, Eeles, Ros, Ellis, Steve, Evans, D Gareth, Frost, Debra, Izatt, Louise, Porteous, Mary E, Side, Lucy E, Walker, Lisa, Berthet, Pascaline, Bonadona, Valérie, Leroux, Dominique, Mouret-Fourme, Emmanuelle, Venat-Bouvet, Laurence, Buys, Saundra S, Southey, Melissa C, John, Esther M, Chung, Wendy K, Daly, Mary B, Bane, Anita, van Asperen, Christi J, Gómez Garcia, Encarna B, Mourits, Marian J E, van Os, Theo A M, Roos-Blom, Marie-José, Friedlander, Michael L, McLachlan, Sue-Anne, Singer, Christian F, Tan, Yen Y, Foretova, Lenka, Navratilova, Marie, Gerdes, Anne-Marie, Caldes, Trinidad, Simard, Jacques, Olah, Edith, Jakubowska, Anna, Arver, Brita, Osorio, Ana, Noguès, Catherine, Andrieu, Nadine, Easton, Douglas F, van Leeuwen, Flora E, Hopper, John L, Milne, Roger L, Antoniou, Antonis C, Rookus, Matti A
Publicado 2018

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

por Figlioli, Gisella, Billaud, Amandine, Wang, Qin, Bolla, Manjeet K., Dennis, Joe, Lush, Michael, Kvist, Anders, Adank, Muriel A., Ahearn, Thomas U., Antonenkova, Natalia N., Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brüning, Thomas, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Czene, Kamila, Devilee, Peter, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A., Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Glendon, Gord, Gómez Garcia, Encarna B., González-Neira, Anna, Grassmann, Felix, Guénel, Pascal, Hahnen, Eric, Hamann, Ute, Hillemanns, Peter, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, Jakubowska, Anna, Khusnutdinova, Elza K., Kristensen, Vessela N., Lindblom, Annika, Loizidou, Maria A., Lubiński, Jan, Mannermaa, Arto, Maurer, Tabea, Mavroudis, Dimitrios, Newman, William G., Obi, Nadia, Panayiotidis, Mihalis I., Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Ruebner, Matthias, Saloustros, Emmanouil, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Shah, Mitul, Southey, Melissa C., Tomlinson, Ian, Truong, Thérèse, van Veen, Elke M., Wendt, Camilla, Yang, Xiaohong R., Michailidou, Kyriaki, Dunning, Alison M., Pharoah, Paul D. P., Easton, Douglas F., Andrulis, Irene L., Evans, D. Gareth, Hollestelle, Antoinette, Chang-Claude, Jenny, Milne, Roger L., Peterlongo, Paolo
Publicado 2023

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

por Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D. Gareth R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek
Publicado 2023

Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

por Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H., Hillemanns, Peter, Couch, Fergus J., Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W.R., Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K., Van ‘t Veer, Laura J., Braaf, Linde M., Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C., Hopper, John L., Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L., Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I., Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J., Tollenaar, Robert A.E.M., Hooning, Maartje J., Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L., Arias, José Ignacio, Zamora, M. Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G., kConFab, Group, AOCS Study, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A., Caligo, Maria A., Godwin, Andrew K., Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L., Domchek, Susan M., SWE-BRCA, Loman, Niklas, Karlsson, Per, Askmalm, Marie Stenmark, Melin, Beatrice, von Wachenfeldt, Anna, HEBON, Hogervorst, Frans B. L., Verheus, Martijn, Rookus, Matti A., Seynaeve, Caroline, Oldenburg, Rogier A., Ligtenberg, Marjolijn J., Ausems, Margreet G.E.M., Aalfs, Cora M., Gille, Hans J.P., Wijnen, Juul T., Gómez García, Encarna B., EMBRACE, Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Evans, D. Gareth, Eeles, Rosalind, Gold, Bert, Pharoah, Paul D.P., Offit, Kenneth, Chenevix-Trench, Georgia, Easton, Douglas F.
Publicado 2012