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

Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan
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Academic Editor: Shailja Pathania
Genes 2021, 12(7), 1050; https://doi.org/10.3390/genes12071050
Received: 21 May 2021 / Revised: 2 July 2021 / Accepted: 6 July 2021 / Published: 8 July 2021
(This article belongs to the Special Issue BRCA1 and BRCA2: Genome Instability and Tumorigenesis)
Hereditary breast and ovarian cancer is caused by a germline mutation in BRCA1 or BRCA2 genes. The frequency of germline BRCA1/2 gene mutation carriers and the ratio of germline BRCA1 to BRCA2 mutations in BRCA-related cancer patients vary depending on the population. Genotype and phenotype correlations have been reported in BRCA mutant families, however, the correlations are rarely used for individual risk assessment and management. BRCA genetic testing has become a companion diagnostic for PARP inhibitors, and the number of families with germline BRCA 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 BRCA 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 BRCA mutation location, and differences of other BRCA-related cancer risks by BRCA1/2 mutation, and furthermore, we discussed the difference in the prevalence of germline BRCA 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 BRCA mutation location. If it becomes possible to estimate the risk of developing BRCA-related cancer for each BRCA mutation type, the age at risk-reducing salpingo-oophorectomy can be determined individually. The decision would bring great benefits to young women with germline BRCA mutations. View Full-Text
Keywords: BRCA1/2; hereditary breast and ovarian cancer; BRCA-related cancer; risk-reducing salpingo-oophorectomy BRCA1/2; hereditary breast and ovarian cancer; BRCA-related cancer; risk-reducing salpingo-oophorectomy
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MDPI and ACS Style

Sekine, M.; Nishino, K.; Enomoto, T. Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location. Genes 2021, 12, 1050. https://doi.org/10.3390/genes12071050

AMA Style

Sekine M, Nishino K, Enomoto T. Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location. Genes. 2021; 12(7):1050. https://doi.org/10.3390/genes12071050

Chicago/Turabian Style

Sekine, Masayuki, Koji Nishino, and Takayuki Enomoto. 2021. "Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location" Genes 12, no. 7: 1050. https://doi.org/10.3390/genes12071050

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