부산대학교 도서관

Hereditary breast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of BRCA1or BRCA2is 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 data including approximately 54,000 individuals from the general population of the Tohoku area in Japan. We analyzed these data and comprehensively identified the prevalence of BRCA1/2pathogenic and truncating variants. We believe that an accurate understanding of the unique distribution and characteristics of pathogenic BRCA1/2variants in Japan through this analysis will enable better surveillance and intervention for HBOC patients, not only in Japan but also worldwide.