The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population

AbstractHereditary breast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants ofBRCA1 orBRCA2 is 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 ofBRCA1/2 pathogenic and truncating variants. We believe that an accurate understanding of the unique distribution and characteristics of pathogenicBRCA1/2 variants in Japan through this analysis will enable better surveillance and intervention for HBOC patients, not only in Japan but also worldwide.
Source: Journal of Human Genetics - Category: Genetics & Stem Cells Source Type: research