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Article

Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model.

Journal of human genetics - 1 Dec 2023

Guo Qianqian, Ji Shuting, Takeuchi Kazuma, Urasaki Wataru, Suzuki Asuka, Iwasaki Yusuke, Saito Hiroko, Xu Zeyu, Arai Masami, Nakamura Seigo, Momozawa Yukihide, Chiba Natsuko, Miki Yoshio, Matsuura Masaaki, Sunada Shigeaki

Abstract excerpt

Numerous variants of unknown significance (VUSs) exist in hereditary breast and ovarian cancers. Although multiple methods have been developed to assess the significance of BRCA1/2 variants, functional discrepancies among these approaches remain. Therefore, a comprehensive functional evaluation system for these variants should be established. We performed conventional homologous recombination (HR) assays for 50...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37731132
DOI: 10.1038/s10038-023-01194-6

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