Article
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2022
Li Hongyan, Engel Christoph, de la Hoya Miguel, Peterlongo Paolo, Yannoukakos Drakoulis, Livraghi Luca, Radice Paolo, Thomassen Mads, Hansen Thomas V O, Gerdes Anne-Marie, Nielsen Henriette R, Caputo Sandrine M, Zambelli Alberto, Borg Ake, Solano Angela, Thomas Abigail, Parsons Michael T, Antoniou Antonis C, Leslie Goska, Yang Xin, Chenevix-Trench Georgia, Caldes Trinidad, Kwong Ava, Pedersen Inge Søkilde, Lautrup Charlotte K, John Esther M, Terry Mary Beth, Hopper John L, Southey Melissa C, Andrulis Irene L, Tischkowitz Marc, Janavicius Ramunas, Boonen Susanne E, Kroeldrup Lone, Varesco Liliana, Hamann Ute, Vega Ana, Palmero Edenir I, Garber Judy, Montagna Marco, Van Asperen Christi J, Foretova Lenka, Greene Mark H, Selkirk Tina, Moller Pal, Toland Amanda E, Domchek Susan M, James Paul A, Thorne Heather, Eccles Diana M, Nielsen Sarah M, Manoukian Siranoush, Pasini Barbara, Caligo Maria A, Lazaro Conxi, Kirk Judy, Wappenschmidt Barbara, Spurdle Amanda B, Couch Fergus J, Schmutzler Rita, Goldgar David E
Abstract excerpt
PURPOSE: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with protein truncating (PTC) variants. METHODS: We collected 582 informative pedigrees segregating 1 of 28 missense PVs in BRCA1 and 153 pedigrees segregating 1 of 12 missense...
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