What question did this study set out to answer?

The aim is to analyze BRCA1/BRCA2 variants in the general Japanese population using a large genomic dataset.

January 24, 2026

Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.

TMTasuku Mariya MIMasashi IdogawaSapporo Medical University TSTsuyoshi SaitoSapporo Medical University

Key Points

The aim is to analyze BRCA1/BRCA2 variants in the general Japanese population using a large genomic dataset.
Analyzed whole-genome allele frequencies from the 60KJPN dataset.
Compared these frequencies to the previous 54KJPN dataset.
Focused on pathogenic variants linked to breast and ovarian cancers.
Identified updated frequencies of BRCA1/BRCA2 variants in the population.
Findings indicate the significance of these variants in hereditary cancer risk.

Abstract

Recently, the Tohoku Medical Megabank Organization released whole-genome allele frequencies of single-nucleotide variants and indels from approximately 60,000 individuals from the general Japanese population in the Tohoku region (60KJPN). Here we analyzed the 60KJPN dataset for BRCA1/BRCA2 variants and compared them with the previous version, 54KJPN, to ascertain the frequency of hereditary breast and ovarian cancers in the general Japanese population. We hope that these results will contribute to strategies for cancer prevention.

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