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Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer.

Familial cancer - 1 Apr 2021

Wan Qiting, Hu Li, Ouyang Tao, Li Jinfeng, Wang Tianfeng, Fan Zhaoqing, Fan Tie, Lin Benyao, Xu Ye, Xie Yuntao

Abstract excerpt

Characterizing the pathogenicity of BRCA1 variants of uncertain significance (VUSs) is a major bottleneck in clinical management of BRCA1-associated breast cancer. Saturation genome editing (SGE) was recently reported as an innovative laboratory-based approach to assess the pathogenicity of BRCA1 variants. We combined clinical phenotypes and SGE score to identify the pathogenicity of BRCA1 VUSs detected in a...

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PMID: 32803532
DOI: 10.1007/s10689-020-00202-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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