Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

Combining results from a homology-directed repair functional assay with clinical and genetic data in an American College of Medical Genetics (ACMG)/AMP-like variant classification framework classified 97.5% of the evaluated BRCA2 non-splicing missense variants as pathogenic/likely pathogenic or benign/likely benign. The results should prove useful for clinical management of individuals with germline BRCA2 missense variants.

Source: The American Journal of Human Genetics - February 27, 2024 Category: Genetics & Stem Cells Authors: Chunling Hu, Huaizhi Huang, Jie Na, Carolyn Lumby, Mohamed Abozaid, Megan A. Holdren, Tara J. Rao, Rachid Karam, Tina Pesaran, Jamie D. Weyandt, Christen M. Csuy, Christina A. Seelaus, Colin C. Young, Kelly Fulk, Zahra Heidari, Paulo Cilas Morais Lyra, Ro Tags: Article Source Type: research