Article
Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification.
Nature communications - 9 Apr 2026
Hu Chunling, Sahu Sounak, Chen Wenan, Galloux Melissa, Richardson Marcy E, Bishop Megan F, Karam Rachid, Pesaran Tina, Na Jie, Huang Huaizhi, Weitzel Jeffrey N, Nathanson Katherine N, Yadav Siddhartha, Boddicker Nicholas J, Domchek Susan M, Monteiro Alvaro N, Iversen Edwin S, Sharan Shyam K, Couch Fergus J
Abstract excerpt
Determining the clinical relevance of BRCA2 variants of uncertain significance is critical for informed risk management. Recently, two saturation genome editing studies assessed the functional effects of all single nucleotide variants in the BRCA2 C-terminal DNA Binding Domain. To improve the accuracy of functional data used for ACMG/AMP variant classification, we combined results from these studies in four...
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