{"title":"群体BRCA测序;是时候进入下一阶段了吗?","authors":"C. Gourley","doi":"10.1111/1471-0528.15984","DOIUrl":null,"url":null,"abstract":"A basic concept of cancer management is that prevention or early detection is more effective than treating advanced stage disease. Genetic stratification of risk is one way to prioritise patients for screening programs or risk reducing surgery. This is particularly appropriate in respect to high penetrance genes such as BRCA1 and BRCA2 when the malignancies that can be prevented are as deadly as triple negative breast cancer and high grade serous ovarian cancer. Access to BRCA1 and BRCA2 germline sequencing is currently largely based upon family history.","PeriodicalId":8984,"journal":{"name":"BJOG: An International Journal of Obstetrics & Gynaecology","volume":"24 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Population BRCA sequencing; time to move to the next phase?\",\"authors\":\"C. Gourley\",\"doi\":\"10.1111/1471-0528.15984\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A basic concept of cancer management is that prevention or early detection is more effective than treating advanced stage disease. Genetic stratification of risk is one way to prioritise patients for screening programs or risk reducing surgery. This is particularly appropriate in respect to high penetrance genes such as BRCA1 and BRCA2 when the malignancies that can be prevented are as deadly as triple negative breast cancer and high grade serous ovarian cancer. Access to BRCA1 and BRCA2 germline sequencing is currently largely based upon family history.\",\"PeriodicalId\":8984,\"journal\":{\"name\":\"BJOG: An International Journal of Obstetrics & Gynaecology\",\"volume\":\"24 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BJOG: An International Journal of Obstetrics & Gynaecology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1111/1471-0528.15984\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BJOG: An International Journal of Obstetrics & Gynaecology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/1471-0528.15984","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Population BRCA sequencing; time to move to the next phase?
A basic concept of cancer management is that prevention or early detection is more effective than treating advanced stage disease. Genetic stratification of risk is one way to prioritise patients for screening programs or risk reducing surgery. This is particularly appropriate in respect to high penetrance genes such as BRCA1 and BRCA2 when the malignancies that can be prevented are as deadly as triple negative breast cancer and high grade serous ovarian cancer. Access to BRCA1 and BRCA2 germline sequencing is currently largely based upon family history.