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The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

Journal of human genetics - 1 May 2024

Idogawa Masashi, Mariya Tasuku, Tanaka Yumi, Saito Tsuyoshi, Nakase Hiroshi, Tokino Takashi, Sakurai Akihiro

Abstract excerpt

Hereditary breast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of BRCA1 or BRCA2 is the most common and well-documented hereditary tumor. Although founder variants have been identified in population-based surveys in various countries, the types of variants are not uniform across races and regions. Recently, the Tohoku Medical Megabank Organization (ToMMo) released whole-genome sequence...

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PMID: 38409497
DOI: 10.1038/s10038-024-01233-w

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