Ovarian cancer as part of hereditary cancer syndromes (review)
Background: Hereditary forms of ovarian cancer (OC) account for more than one fifth of cases of malignant neoplasms of this localization. The discovery of new molecular genetic predictors of OC development led to the improvement of the early diagnosis system and therapeutic approaches to treatment, which significantly reduced mortality from this oncopathology. However, existing screening systems cover only a small range of pathogenic variants, which is why their predictive value is greatly reduced. The aim of the study: Based on the study of modern literature data, to consider the representation of ovarian cancer in the composition of hereditary sidromes and to assess the contribution of genetic factors to the development of hereditary forms of ovarian cancer. Materials and methods: Analysis of the literature data was carried out using the keywords: hereditary ovarian cancer, breast and ovarian cancer syndrome, Cowden's syndrome, Lynch's syndrome, Nijmegen's syndrome, ataxia-telangiectasia, Fanconi anemia, Peitz-Jegers syndrome for the period 1981-2021 in databases: PubMed, PMC, eLibrary. Results: The syndrome of breast and ovarian cancer is the most common form of familial ovarian cancer, which in 65-85% of cases is caused by germline mutations in the BRCA1 / BRCA2 genes. However, to date, at least six more tumor syndromes are known associated with hereditary OC and caused by mutations in other suppressor genes and oncogenes, including genes MSH6, MLH1, MSH2 (Lynch syndrome), NBN (Nijmegen syndrome), ATM (ataxia telangiectasia), STK11 (Peitz-Jegers syndrome), RAD51C, RAD51D, BRIP1, PALB (Fanconi's anemia), PTEN (Cowden's syndrome). Germline mutations in these genes are responsible for about 15-20% of cases of hereditary forms of OC. Nevertheless, the spectrum of pathogenic variants in these genes and their contribution to the development of OC has been insufficiently studied, which complicates the development of molecular diagnostic strategies. Conclusion: The development and implementation of the latest sequencing technologies have made it possible to expand knowledge of the molecular mechanisms of ovarian tumor formation and to identify many new molecular markers of this process. However, the contribution of the identified variants to the formation of predisposition to OC has been insufficiently studied and requires further research.
Valova YV, Mingazheva ET, Prokofieva DS, et al. Ovarian cancer as part of hereditary cancer syndromes (review). Research Results in Biomedicine. 2021;7(4): 330-362. Russian. DOI: 10.18413/2658-6533-2021-7-4-0-2
While nobody left any comments to this publication.
You can be first.
Yana V. Valova thanks the Russian Foundation for Basic Research (Project No. 20-34-90003) for financial support of this work. Prokofieva D.S. thanks the Ministry of Science and Higher Education of the Russian Federation (State Assignment No. 075-03-2021-193/5) for financial support of this work. Mingazheva E.T. thanks the Russian Foundation for Basic Research (Project No. 18-29-09129) for financial support of this work