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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

Hongyan Li, Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi, Paolo Radice, Mads Thomassen, Thomas van Overeem Hansen, Anne‐Marie Gerdes, Henriette Roed Nielsen, Sandrine M. Caputo, Alberto Zambelli, Åke Borg, Ángela R. Solano, Abigail Thomas, Michael T. Parsons, Antonis C. Antoniou, Goska Leslie, Xin Yang, Georgia Chenevix‐Trench, Trinidad Caldés, Ava Kwong, Inge Søkilde Pedersen, Charlotte Kvist Lautrup, Esther M. John, Mary Beth Terry, John L. Hopper, Melissa C. Southey, Irene L. Andrulis, Marc Tischkowitz, Ramūnas Janavičius, Susanne E. Boonen, Lone Kroeldrup, Liliana Varesco, Ute Hamann, Ana Vega, Edenir Inêz Palmero, Judy E. Garber, Marco Montagna, Christi J. van Asperen, Lenka Foretová, Mark H. Greene, Tina Selkirk, Pål Møller, Amanda E. Toland, Susan M. Domchek, Paul A. James, Heather Thorne, Diana M. Eccles, Sarah M. Nielsen, Siranoush Manoukian, Barbara Pasini, Maria A. Caligo, Conxi Lázaro, Judy Kirk, Barbara Wappenschmidt, Amanda B. Spurdle, Fergus J. Couch, Rita K. Schmutzler, David E. Goldgar

2021Genetics in Medicine29 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationOvarian cancerBreast cancerMedicineBRCA2 ProteinGeneticsOncologyCancer researchBiologyCancerInternal medicineMutationGeneGermline mutationBRCA gene mutations in cancerGenetic factors in colorectal cancerGenomics and Rare Diseases
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants | Litcius