Y. Belysheva, E. K. Bakaeva, A. Venina, A. Romanko, G. Raskin, A. Sokolenko, E. N. Suspitsin, A. A. Avetisyan, S. Orlov, E. N. Imyanitov
{"title":"BRCA1/2 mutation spectrum in Armenian patients with breast and ovarian cancers","authors":"Y. Belysheva, E. K. Bakaeva, A. Venina, A. Romanko, G. Raskin, A. Sokolenko, E. N. Suspitsin, A. A. Avetisyan, S. Orlov, E. N. Imyanitov","doi":"10.21294/1814-4861-2023-22-6-83-91","DOIUrl":null,"url":null,"abstract":"The aim of the study was to compare the spectra of pathogenic BRCA1 and BRCA2 variants in patients with hereditary breast cancer (BC) and ovarian cancer (OC) from two groups of ethnic Armenians: Yerevan and cities of southern Russia.Material and Methods. 106 BC patients from the V.A. Fanardjian National Centre of Oncology (Yerevan, Republic of Armenia) and 117 BC and OC patients of Armenian origin who were referred to the Petrov National Medical Centre of Oncology (St. Petersburg, Russia) from several cancer centers of Russia (Krasnodar, Sochi, Pyatigorsk) were included into the study. The coding sequences of BRCA1 and BRCA2 genes were analyzed by the method of targeted high-throughput sequencing.Results. Pathogenic variants of BCRA1 and BCRA2 genes were detected in 16/106 (BRCA1: n=9, BRCA2: n=7; 15%) BC patients from Yerevan. The only recurrent mutation was the BRCA1 nonsense variant c.5444G>A [W1815X], accounting for 44% of all pathogenic alleles identified. In patients of Armenian origin from Russia, pathogenic BRCA1/2 variants were detected in 16/117 (14%) individuals (BRCA1: n=6, BRCA2: n=10). The proportion of samples with mutations was 13% in the group of BC patients and 19% in the group of OC patients. 75% of pathogenic alleles were represented by five recurrent mutations: BRCA1 c.2649_2650insGGCA, BRCA2 c.2808_2808_2811delACAA, BRCA1 c.4065_4068delTCAA, BRCA2 c.9027delT and BRCA2 c.8437G>T [G2813X]. The independent origin of the pathogenic BRCA2 c.2808_2808_2811delACAA variant in Armenian and non-Armenian patients was shown.Conclusion. A significant difference in the spectrum of BRCA1/2 mutations between Armenian patients from Yerevan and patients from southern regions of Russia was found. This should be taken into account when developing diagnostic programs.","PeriodicalId":21881,"journal":{"name":"Siberian journal of oncology","volume":"10 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Siberian journal of oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21294/1814-4861-2023-22-6-83-91","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
The aim of the study was to compare the spectra of pathogenic BRCA1 and BRCA2 variants in patients with hereditary breast cancer (BC) and ovarian cancer (OC) from two groups of ethnic Armenians: Yerevan and cities of southern Russia.Material and Methods. 106 BC patients from the V.A. Fanardjian National Centre of Oncology (Yerevan, Republic of Armenia) and 117 BC and OC patients of Armenian origin who were referred to the Petrov National Medical Centre of Oncology (St. Petersburg, Russia) from several cancer centers of Russia (Krasnodar, Sochi, Pyatigorsk) were included into the study. The coding sequences of BRCA1 and BRCA2 genes were analyzed by the method of targeted high-throughput sequencing.Results. Pathogenic variants of BCRA1 and BCRA2 genes were detected in 16/106 (BRCA1: n=9, BRCA2: n=7; 15%) BC patients from Yerevan. The only recurrent mutation was the BRCA1 nonsense variant c.5444G>A [W1815X], accounting for 44% of all pathogenic alleles identified. In patients of Armenian origin from Russia, pathogenic BRCA1/2 variants were detected in 16/117 (14%) individuals (BRCA1: n=6, BRCA2: n=10). The proportion of samples with mutations was 13% in the group of BC patients and 19% in the group of OC patients. 75% of pathogenic alleles were represented by five recurrent mutations: BRCA1 c.2649_2650insGGCA, BRCA2 c.2808_2808_2811delACAA, BRCA1 c.4065_4068delTCAA, BRCA2 c.9027delT and BRCA2 c.8437G>T [G2813X]. The independent origin of the pathogenic BRCA2 c.2808_2808_2811delACAA variant in Armenian and non-Armenian patients was shown.Conclusion. A significant difference in the spectrum of BRCA1/2 mutations between Armenian patients from Yerevan and patients from southern regions of Russia was found. This should be taken into account when developing diagnostic programs.
期刊介绍:
The main objectives of the journal are: -to promote the establishment of Russia’s leading worldwide positions in the field of experimental and clinical oncology- to create the international discussion platform intended to cover all aspects of basic and clinical cancer research, including carcinogenesis, molecular biology, epidemiology, cancer prevention, diagnosis and multimodality treatment (surgery, chemotherapy, radiation therapy, hormone therapy), anesthetic management, medical and social rehabilitation, palliative care as well as the improvement of life quality of cancer patients- to encourage promising young scientists to be actively involved in cancer research programs- to provide a platform for researches and doctors all over the world to promote, share, and discuss various new issues and developments in cancer related problems. (to create a communication platform for the expansion of cooperation between Russian and foreign professional associations).- to provide the information about the latest worldwide achievements in different fields of oncology The most important tasks of the journal are: -to encourage scientists to publish their research results- to offer a forum for active discussion on topics of major interest - to invite the most prominent Russian and foreign authors to share their latest research findings with cancer research community- to promote the exchange of research information, clinical experience, current trends and the recent developments in the field of oncology as well as to review interesting cases encountered by colleagues all over the world- to expand the editorial board and reviewers with the involvement of well-known Russian and foreign experts- to provide open access to full text articles- to include the journal into the international database- to increase the journal’s impact factor- to promote the journal to the International and Russian markets