학술논문
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1and BRCA2compared with those harboring protein truncating variants
Document Type
Article
Author
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.
Source
Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p119-129, 11p
Subject
Language
ISSN
10983600; 15300366
Abstract
Germline genetic testing for BRCA1and BRCA2variants 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.