Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population
Allele frequency analysis of rare GPVs of cancer predisposition genes offered valuable insight into the prevalence of GPV carriers of HCPSs in the Japanese population. Hotspot variants may represent founder mutations within specific ethnic groups, and their presence or absence could affect gene-specific allele frequencies.
Authors
- Masami Arai (ORCID: https://orcid.org/0000-0001-7544-4536)
- Kazushige Kawai (ORCID: https://orcid.org/0000-0002-5881-0036)
- Tatsuro Yamaguchi (ORCID: https://orcid.org/0000-0001-8454-1995)
- Akinari Takao (ORCID: https://orcid.org/0000-0003-1903-1221)
- Kensuke Kumamoto
- Takeshi Yamada (ORCID: https://orcid.org/0000-0002-1436-7482)
- Misato Takao (ORCID: https://orcid.org/0009-0004-4903-097X)
- Hideyuki Ishida
- Yoshiko Mori
Institutions
- Kagawa University (JP)
- Tokyo Metropolitan Komagome Hospital (JP)
- Juntendo University (JP)
- Nippon Medical School Hospital (JP)
- Nippon Medical School (JP)
- Saitama Medical University (JP)
Publication Details
- Journal
- Japanese Journal of Clinical Oncology
- Published
- 2025-10-31
- DOI
- https://doi.org/10.1093/jjco/hyaf181
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00