T. E. Tikhomirova, A. Tyulyandina, A. A. Rumyantsev, M. E. Abramov, A. Anokhin, A. Lud, S. Tjulandin
{"title":"brca相关卵巢癌:当前文献综述","authors":"T. E. Tikhomirova, A. Tyulyandina, A. A. Rumyantsev, M. E. Abramov, A. Anokhin, A. Lud, S. Tjulandin","doi":"10.17650/2686-9594-2022-12-3-56-62","DOIUrl":null,"url":null,"abstract":"Ovarian cancer is a heterogeneous disease and is the leading cause of mortality among all gynecological malignancies. The disease is characterized by a high frequency of germline and somatic mutations in BRCA1/2 suppressor genes, which, according to various sources, occur in 10–27 % of all ovarian cancer cases. Determination of mutations in BRCA1 / 2 genes is a mandatory diagnostic criteria and includes performing next generation sequencing. Knowledge of the disease mutational status is important not only in the case of determining treatment plan, but also in the case of prevention of the other malignant neoplasms. The purpose of this review is to summarize the current data on the disease characteristics, diagnosis and treatment of BRCA-associated ovarian cancer. Also, the article presents data from a non-interventional multicenter OvATAR study to assess the prevalence of germline and somatic mutations in BRCA1 / 2 genes in the Russian patient population.","PeriodicalId":34449,"journal":{"name":"Tazovaia khirurgiia i onkologiia","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"BRCA-associated ovarian cancer: a review of the current literature\",\"authors\":\"T. E. Tikhomirova, A. Tyulyandina, A. A. Rumyantsev, M. E. Abramov, A. Anokhin, A. Lud, S. Tjulandin\",\"doi\":\"10.17650/2686-9594-2022-12-3-56-62\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Ovarian cancer is a heterogeneous disease and is the leading cause of mortality among all gynecological malignancies. The disease is characterized by a high frequency of germline and somatic mutations in BRCA1/2 suppressor genes, which, according to various sources, occur in 10–27 % of all ovarian cancer cases. Determination of mutations in BRCA1 / 2 genes is a mandatory diagnostic criteria and includes performing next generation sequencing. Knowledge of the disease mutational status is important not only in the case of determining treatment plan, but also in the case of prevention of the other malignant neoplasms. The purpose of this review is to summarize the current data on the disease characteristics, diagnosis and treatment of BRCA-associated ovarian cancer. Also, the article presents data from a non-interventional multicenter OvATAR study to assess the prevalence of germline and somatic mutations in BRCA1 / 2 genes in the Russian patient population.\",\"PeriodicalId\":34449,\"journal\":{\"name\":\"Tazovaia khirurgiia i onkologiia\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-09-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Tazovaia khirurgiia i onkologiia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17650/2686-9594-2022-12-3-56-62\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tazovaia khirurgiia i onkologiia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17650/2686-9594-2022-12-3-56-62","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
BRCA-associated ovarian cancer: a review of the current literature
Ovarian cancer is a heterogeneous disease and is the leading cause of mortality among all gynecological malignancies. The disease is characterized by a high frequency of germline and somatic mutations in BRCA1/2 suppressor genes, which, according to various sources, occur in 10–27 % of all ovarian cancer cases. Determination of mutations in BRCA1 / 2 genes is a mandatory diagnostic criteria and includes performing next generation sequencing. Knowledge of the disease mutational status is important not only in the case of determining treatment plan, but also in the case of prevention of the other malignant neoplasms. The purpose of this review is to summarize the current data on the disease characteristics, diagnosis and treatment of BRCA-associated ovarian cancer. Also, the article presents data from a non-interventional multicenter OvATAR study to assess the prevalence of germline and somatic mutations in BRCA1 / 2 genes in the Russian patient population.