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Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Japanese journal of clinical oncology - 13 Feb 2026

Yamaguchi Tatsuro, Kawai Kazushige, Takao Misato, Takao Akinari, Mori Yoshiko, Arai Masami, Kumamoto Kensuke, Yamada Takeshi, Ishida Hideyuki

Abstract excerpt

BACKGROUND: Germline pathogenic variants (GPVs) in cancer predisposition genes increase cancer risk, but their population-level prevalence in Japan remains unclear. AIM: To estimate the prevalence of GPV carriers of hereditary cancer predisposition syndromes (HCPSs) in the Japanese population. DATA SOURCE AND METHODS: A cross-sectional analysis of the Tohoku Medical Megabank Organization datasets was conducted to...

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PMID: 41342546
DOI: 10.1093/jjco/hyaf181

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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