Современная онкология (Sep 2015)
Hereditary ovarian cancer
Abstract
Epithelial carcinoma or ovarian cancer (OC) is the fifth most common cause of cancer mortality in women, and hereditary/familial OC occurs in 15-20% of all cases. Approximately 1/2 of these cases are developed due to germline mutations in the BRCA1/BRCA2 genes. OC associated with BRCA1/BRCA2 mutations are highly sensitive to platinum based chemotherapy regimens and to chemotherapy with the inclusion of targeted drugs. BRCA1 and BRCA2 mutations are multivarious, but they lead to one result: the synthesis of defective protein which is unable to participate in homologous recombination or damaged DNA reparation. There is an interesting fact that the large variety of mutations can be found in different ethnic populations. The Slavic Russian population is characterized by a "founder effect" in BRCA1 gene, especially in case of hereditary breast cancer. However, OC has its special characteristics as in the distribution of frequency BRCA1 mutations and occasional BRCA2 mutations, and in the incidence rate of somatic mutations in the same genes. This phenomenon requires special approach in case of choice of population, material for mutations testing and in choosing the most appropriate research methodology.
