Phase and context shape the function of composite oncogenic mutations.
Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.
Cancers
Incorvaia, Lorena L; Fanale, Daniele D; Badalamenti, Giuseppe G; Bono, Marco M; Calò, Valentina V; Cancelliere, Daniela D; Castiglia, Marta M; Fiorino, Alessia A; Pivetti, Alessia A; Barraco, Nadia N; Cutaia, Sofia S; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020-05-05
Variant appearance in text: BRCA2: 8393C>G; Pro2798Arg
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
Human Mutation
Li, Lili L; Biswas, Kajal K; Habib, Laura Anne LA; Kuznetsov, Sergey G SG; Hamel, Nancy N; Kirchhoff, Tomas T; Wong, Nora N; Armel, Susan S; Chong, George G; Narod, Steven A SA; Claes, Kathleen K; Offit, Kenneth K; Robson, Mark E ME; Stauffer, Stacey S; Sharan, Shyam K SK; Foulkes, William D WD