Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.

doi:10.1158/1078-0432.CCR-22-0203

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Article

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.

Clinical cancer research : an official journal of the American Association for Cancer Research - 1 Sept 2022

Hu Chunling, Susswein Lisa R, Roberts Maegan E, Yang Hana, Marshall Megan L, Hiraki Susan, Berkofsky-Fessler Windy, Gupta Sounak, Shen Wei, Dunn Carolyn A, Huang Huaizhi, Na Jie, Domchek Susan M, Yadav Siddhartha, Monteiro Alvaro N A, Polley Eric C, Hart Steven N, Hruska Kathleen S, Couch Fergus J

Abstract excerpt

PURPOSE: The identification of variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for the clinical management of variant carriers. The ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology) variant classification framework, which incorporates multiple sources of evidence, has the potential to establish...

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Identifiers

PMID: 35736817
DOI: 10.1158/1078-0432.CCR-22-0203
PMCID: PMC9433957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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