Differences in Ovarian and Other Cancers Risks by Population and <i>BRCA</i> Mutation Location

• Main Authors: Masayuki Sekine, Koji Nishino, Takayuki Enomoto
• Format: Article
• Language: English
• Published: MDPI AG 2021-07-01
• Series: Genes
• Subjects: <i>BRCA1/2</i>; hereditary breast and ovarian cancer; <i>BRCA</i>-related cancer; risk-reducing salpingo-oophorectomy
• Online Access: https://www.mdpi.com/2073-4425/12/7/1050

Hereditary breast and ovarian cancer is caused by a germline mutation in <i>BRCA1</i> or <i>BRCA2</i> genes. The frequency of germline <i>BRCA1/2</i> gene mutation carriers and the ratio of germline <i>BRCA1</i> to <i>BRCA2</i> mutations in <i>BRCA</i>-related cancer patients vary depending on the population. Genotype and phenotype correlations have been reported in <i>BRCA</i> mutant families, however, the correlations are rarely used for individual risk assessment and management. <i>BRCA</i> genetic testing has become a companion diagnostic for PARP inhibitors, and the number of families with germline <i>BRCA</i> 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 <i>BRCA</i> 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 <i>BRCA</i> mutation location, and differences of other <i>BRCA</i>-related cancer risks by <i>BRCA1/2</i> mutation, and furthermore, we discussed the difference in the prevalence of germline <i>BRCA</i> 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 <i>BRCA</i> mutation location. If it becomes possible to estimate the risk of developing BRCA-related cancer for each <i>BRCA</i> mutation type, the age at risk-reducing salpingo-oophorectomy can be determined individually. The decision would bring great benefits to young women with germline <i>BRCA</i> mutations.