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Articles

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 - British Journal of Cancer

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By Susan J. Ramus, Nicola S. Meagher, Irene L. Andrulis, Jeffrey N. Weitzel, Anna Jakubowska, Andrew Godwin, Jacques Simard, Manuel R. Teixeira, Wendy Chung, Peter J Hulick, Amanda E. Toland, Inge Sokilde Pedersen, HEBON Investigators, Susan Neuhausen, Ana Francisca Vega Verified, Heli Nevanlinna, Katherine L. Nathanson, Ana Osorio, Maria Garcia, Maria García Verified, María García Gil, Beth Karlan, GEMO Study Collaborators, Anna de Fazio, AOCS Group, Goska Leslie, Thilo Dörk, Paolo Peterlongo, Douglas F. Easton, Christian F. Singer, Weiva Sieh, James Brenton, Irene Konstantopoulou, Jana Soukupová, Michal Vocka, Amanda B. Spurdle, Kyriaki Michailidou, Denise G. O’Mahony, Adalgeir Arason, CZECANCA Consortium
| Nature Verified
Abstract Background The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers - Communications Biology

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By John Pearson, Joe Dennis, Daniel Barnes Verified, Peter D. Mace, Irene L. Andrulis, Jacopo Azzollini, Marinus J. Blok, Joan Brunet, Ian Campbell, Wendy Chung, GEMO Study Collaborators, EMBRACE Collaborators, Sita Dandiker, Robin de Putter, Douglas F. Easton, Hans Ehrencrona, Lidia Feliubadaló, Simon A. Gayther, Paul Gesta, Andrew Godwin, Mark Greene, Jan Hauke, Peter J Hulick, SWE-BRCA Investigators, K ConFab Investigators, HEBON Investigators, Claudine Isaacs, Louise Izatt, Ángel Cabrera Izquierdo, Anna Jakubowska, Paul James, Vijai Joseph, Beth Karlan, Irene Konstantopoulou, Conxi Lázaro, Goska Leslie, Fabienne El-Khoury Lesueur, Austin L. Miller Verified, Sophie Nambot, Katherine L. Nathanson, Susan Neuhausen, Heli Nevanlinna, Liene Nikitina-Zake, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Sue K Park, Michael Parsons, Inge Sokilde Pedersen, Paolo Peterlongo, Paolo Radice, Efraim H Rosenberg, Jacques Simard, Doris Steinemann, Christian Sutter, Manuel R. Teixeira, Soo Hwang Teo, Marc Tischkowitz, Amanda E. Toland, Vishakha Tripathi, Ana Francisca Vega Verified, Alessandra Viel, Jeffrey N. Weitzel, Marike R. Wevers, Amanda B. Spurdle
| Nature Verified
Study cohort Female BRCA1 and BRCA2 pathogenic variant carriers were from study centres across North America, Europe, and Australia participating in CIMBA (Supplementary Data 12), as reported previously4,5. Eligibility criteria for study participants included: (1) female carriers of BRCA1 or BRCA2 pathogenic variants; and (2) minimum 18 years of age at recruitment.
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

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By GEMO Study Collaborators, ABCTB Investigators, Bressac-de Paillerets, NBSC Collaborators
| ucl.ac.uk
Milne, RL; Kuchenbaecker, KB; Michailidou, K; Beesley, J; Kar, S; Lindström, S; Hui, S; ...
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