Affiliation:
1. Sapporo Medical University School of Medicine
Abstract
Abstract
Hereditarybreast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of BRCA1 or BRCA2 is the most common and well-documented hereditary tumor. Although founder mutations 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 theTohoku area in Japan. We analyzed these data and comprehensively identified the prevalence of BRCA1/2 pathogenic and truncating variants. Interestingly, our analysis showed that most of the top BRCA1/2pathogenic variants believed to be founder mutations do not match reports from other countries. 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.
Publisher
Research Square Platform LLC