Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.
Journal Of Human Genetics
Aref-Eshghi, Erfan E; McGee, Jacob D JD; Pedro, Victor P VP; Kerkhof, Jennifer J; Stuart, Alan A; Ainsworth, Peter J PJ; Lin, Hanxin H; Volodarsky, Michael M; McLachlin, Catherine Meg CM; Sadikovic, Bekim B
Publication Date: 2020-10
Variant appearance in text: BRCA1: 2713C>G; Gln905Glu
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