Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers.
Scientific Reports
Lee, Jeeyeon J; Ham, Ji Yeon JY; Park, Ho Yong HY; Jung, Jin Hyang JH; Kim, Wan Wook WW; Kang, Byeongju B; Chae, Yee Soo YS; Lee, Soo Jung SJ; Lee, In Hee IH; Lee, Nan Young NY
Publication Date: 2022-02-03
Variant appearance in text: BRCA2: 3132T>G; Cys1044Trp
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