Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.

doi:10.1136/jmg-2025-111305

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Article

Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.

Journal of medical genetics - 25 May 2026

Yamazawa Kazuki, Ueki Arisa, Kuga Asami, Hinoi Takao, Niitsu Hiroaki, Minatogawa Mari, Kawano Junko, Minami Sawako, Okawa Megumi, Takei Junko, Ichikawa Makoto, Enokido Katsutoshi, Akimaru Noriko, Torii Masae, Tsuyuki Shigeru, Iguchi Chikage, Inoue Tazuko, Nakajima Takeshi, Watanabe Noriyuki, Tanoshima Miki, Harada-Shoji Narumi, Taruno Kanae, Arai Masami, Murakami Fumi, Ogawa Masanobu, Tamura Kazuo, Sugano Kokichi, Tanakaya Kohji, Inoue Satomi, Murakami Haruka, Nakashima Moeko, Makabe Takeshi, Kosaki Kenjiro, Matsui Akira

Abstract excerpt

BACKGROUND: The BRCA2 c.7847C>T (p.Ser2616Phe) variant is specific to the Japanese population and has long remained a variant of uncertain significance. Because BRCA1/2 genetic testing serves as a companion diagnostic for poly (ADP-ribose) polymerase inhibitor therapy in Japan, unresolved classification has limited access to targeted treatment. METHODS: We conducted a nationwide study using the national...

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Identifiers

PMID: 41856558
DOI: 10.1136/jmg-2025-111305
PMCID: PMC13217121

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BRCA2
BRCA1

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