Article
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
American journal of human genetics - 7 Mar 2024
Hu Chunling, Huang Huaizhi, Na Jie, Lumby Carolyn, Abozaid Mohamed, Holdren Megan A, Rao Tara J, Karam Rachid, Pesaran Tina, Weyandt Jamie D, Csuy Christen M, Seelaus Christina A, Young Colin C, Fulk Kelly, Heidari Zahra, Morais Lyra Paulo Cilas, Couch Ronan E, Persons Benjamin, Polley Eric C, Gnanaolivu Rohan D, Boddicker Nicholas J, Monteiro Alvaro N A, Yadav Siddhartha, Domchek Susan M, Richardson Marcy E, Couch Fergus J
Abstract excerpt
Variants of uncertain significance (VUSs) in BRCA2 are a common result of hereditary cancer genetic testing. While more than 4,000 unique VUSs, comprised of missense or intronic variants, have been identified in BRCA2, the few missense variants now classified clinically as pathogenic or likely pathogenic are predominantly located in the region encoding the C-terminal DNA binding domain (DBD). We report on...
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