Article
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
British journal of cancer - 1 Jun 2023
O'Mahony Denise G, Ramus Susan J, Southey Melissa C, Meagher Nicola S, Hadjisavvas Andreas, John Esther M, Hamann Ute, Imyanitov Evgeny N, Andrulis Irene L, Sharma Priyanka, Daly Mary B, Hake Christopher R, Weitzel Jeffrey N, Jakubowska Anna, Godwin Andrew K, Arason Adalgeir, Bane Anita, Simard Jacques, Soucy Penny, Caligo Maria A, Mai Phuong L, Claes Kathleen B M, Teixeira Manuel R, Chung Wendy K, Lazaro Conxi, Hulick Peter J, Toland Amanda E, Pedersen Inge Sokilde, Neuhausen Susan L, Vega Ana, de la Hoya Miguel, Nevanlinna Heli, Dhawan Mallika, Zampiga Valentina, Danesi Rita, Varesco Liliana, Gismondi Viviana, Vellone Valerio Gaetano, James Paul A, Janavicius Ramunas, Nikitina-Zake Liene, Nielsen Finn Cilius, van Overeem Hansen Thomas, Pejovic Tanja, Borg Ake, Rantala Johanna, Offit Kenneth, Montagna Marco, Nathanson Katherine L, Domchek Susan M, Osorio Ana, García María J, Karlan Beth Y, De Fazio Anna, Bowtell David, McGuffog Lesley, Leslie Goska, Parsons Michael T, Dörk Thilo, Speith Lisa-Marie, Dos Santos Elizabeth Santana, da Costa Alexandre André B A, Radice Paolo, Peterlongo Paolo, Papi Laura, Engel Christoph, Hahnen Eric, Schmutzler Rita K, Wappenschmidt Barbara, Easton Douglas F, Tischkowitz Marc, Singer Christian F, Tan Yen Yen, Whittemore Alice S, Sieh Weiva, Brenton James D, Yannoukakos Drakoulis, Fostira Florentia, Konstantopoulou Irene, Soukupova Jana, Vocka Michal, Chenevix-Trench Georgia, Pharoah Paul D P, Antoniou Antonis C, Goldgar David E, Spurdle Amanda B, Michailidou Kyriaki
Abstract excerpt
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...
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