Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

Autor: Richardson, Marcy E., Holdren, Megan, Brannan, Terra, de la Hoya, Miguel, Spurdle, Amanda B., Tavtigian, Sean V., Young, Colin C., Zec, Lauren, Hiraki, Susan, Anderson, Michael J., Walker, Logan C., McNulty, Shannon, Turnbull, Clare, Tischkowitz, Marc, Schon, Katherine, Slavin, Thomas, Foulkes, William D., Cline, Melissa, Monteiro, Alvaro N., Pesaran, Tina, Couch, Fergus J.

Publikováno v: In The American Journal of Human Genetics 7 November 2024 111(11):2411-2426

Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions

Autor: Dareng, Eileen O., Coetzee, Simon G., Tyrer, Jonathan P., Peng, Pei-Chen, Rosenow, Will, Chen, Stephanie, Davis, Brian D., Dezem, Felipe Segato, Seo, Ji-Heui, Nameki, Robbin, Reyes, Alberto L., Aben, Katja K.H., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Bandera, Elisa V., Beane Freeman, Laura E., Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bolton, Kelly L., Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Cai, Hui, Campbell, Ian, Cannioto, Rikki, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chenevix-Trench, Georgia, Chiew, Yoke-Eng, Cook, Linda S., DeFazio, Anna, Dennis, Joe, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Ene, Gabrielle, Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Fostira, Florentia, Gentry-Maharaj, Aleksandra, Giles, Graham G., Goodman, Marc T., Gronwald, Jacek, Haiman, Christopher A., Håkansson, Niclas, Heitz, Florian, Hildebrandt, Michelle A.T., Høgdall, Estrid, Høgdall, Claus K., Huang, Ruea-Yea, Jensen, Allan, Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony N., Kelemen, Linda E., Kennedy, Catherine J., Khusnutdinova, Elza K., Kiemeney, Lambertus A., Kjaer, Susanne K., Kupryjanczyk, Jolanta, Labrie, Marilyne, Lambrechts, Diether, Larson, Melissa C., Le, Nhu D., Lester, Jenny, Li, Lian, Lubiński, Jan, Lush, Michael, Marks, Jeffrey R., Matsuo, Keitaro, May, Taymaa, McLaughlin, John R., McNeish, Iain A., Menon, Usha, Missmer, Stacey, Modugno, Francesmary, Moffitt, Melissa, Monteiro, Alvaro N., Moysich, Kirsten B., Narod, Steven A., Nguyen-Dumont, Tu, Odunsi, Kunle, Olsson, Håkan, Onland-Moret, N. Charlotte, Park, Sue K., Pejovic, Tanja, Permuth, Jennifer B., Piskorz, Anna, Prokofyeva, Darya, Riggan, Marjorie J., Risch, Harvey A., Rodríguez-Antona, Cristina, Rossing, Mary Anne, Sandler, Dale P., Setiawan, V. Wendy, Shan, Kang, Song, Honglin, Southey, Melissa C., Steed, Helen, Sutphen, Rebecca, Swerdlow, Anthony J., Teo, Soo Hwang, Terry, Kathryn L., Thompson, Pamela J., Vestrheim Thomsen, Liv Cecilie, Titus, Linda, Trabert, Britton, Travis, Ruth, Tworoger, Shelley S., Valen, Ellen, Van Nieuwenhuysen, Els, Edwards, Digna Velez, Vierkant, Robert A., Webb, Penelope M., Weinberg, Clarice R., Weise, Rayna Matsuno, Wentzensen, Nicolas, White, Emily, Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zeinomar, Nur, Zheng, Wei, Ziogas, Argyrios, Berchuck, Andrew, Goode, Ellen L., Huntsman, David G., Pearce, Celeste L., Ramus, Susan J., Sellers, Thomas A., Freedman, Matthew L., Lawrenson, Kate, Schildkraut, Joellen M., Hazelett, Dennis, Plummer, Jasmine T., Kar, Siddhartha, Jones, Michelle R., Pharoah, Paul D.P., Gayther, Simon A.

Publikováno v: In The American Journal of Human Genetics 6 June 2024 111(6):1061-1083

Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.

Autor: Pal, Tuya, Mundt, Erin, Richardson, Marcy E., Chao, Elizabeth, Pesaran, Tina, Slavin, Thomas P., Couch, Fergus J., Monteiro, Alvaro N. A.

Publikováno v: NPJ Precision Oncology; 11/2/2024, Vol. 8 Issue 1, p1-9, 9p

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Assessment of BRCA1 and BRCA2 Germline Variant Data From Patients With Breast Cancer in a Real-World Data Registry.

Autor: Nepomuceno, Thales C., Lyra, Paulo, Zhu, Jianbin, Yi, Fanchao, Martin, Rachael H., Lupu, Daniel, Peterson, Luke, Peres, Lauren C., Berry, Anna, Iversen, Edwin S., Couch, Fergus J., Mo, Qianxing, Monteiro, Alvaro N.

Publikováno v: JCO Clinical Cancer Informatics; 12/1/2024, Vol. 8, p1-11, 11p