Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location

Hereditary breast and ovarian cancer is caused by a germline mutation in or genes. The frequency of germline gene mutation carriers and the ratio of germline to mutations in -related cancer patients vary depending on the population. Genotype and phenotype correlations have been reported in mutant families, however, the correlations are rarely used for individual risk assessment and management. genetic testing has become a companion diagnostic for PARP inhibitors, and the number of families with germline mutation identified is growing rapidly. Therefore, it is expected that analysis of the risk of developing cancer will be possible in a large number of mutant carriers, and there is a possibility that personal and precision medicine for the carriers with specific common founder mutations will be realized. In this review, we investigated the association of ovarian cancer risk and mutation location, and differences of other -related cancer risks by mutation, and furthermore, we discussed the difference in the prevalence of germline mutation in ovarian cancer patients. As a result, although there are various discussions, there appear to be differences in ovarian cancer risk by population and mutation location. If it becomes possible to estimate the risk of developing BRCA-related cancer for each mutation type, the age at risk-reducing salpingo-oophorectomy can be determined individually. The decision would bring great benefits to young women with germline mutations.