参考资料 [1] Q&A: Genetic abnormalities and cancer risk. Retrieved Jan 20 ,2021,from https://medicalxpress.com/news/2021-01-qa-genetic-abnormalities-cancer.html [2] Discovering the BRCA2 gene – 25 years on. Retrieved Jan 20 ,2021,from https://scienceblog.cancerresearchuk.org/2021/01/14...
FDA原文如下: The U.S. Food and Drug Administration today authorized the Personal Genome Service Genetic Health Risk (GHR) Report for BRCA1/BRCA2 (Selected Variants). It is the first direct-to-consumer (DTC) test to report on three specific BRCA1/BRCA2 breast cancer gene mutations that are...
For example, recent health economic studies of genetic testing for an increased risk of breast cancer suggest that it is associated with higher cost-effectiveness to screen for pathogenic variants in a seven gene panel rather than the usual two gene test for variants in BRCA1 and BRCA2. ...
乳腺癌易感基因(breast cancer susceptibility gene)BRCA包括BRCA1和BRCA2,是重要的抑癌基因,其编码产物参与DNA损伤中的同源重组修复,致病性BRCA1/2基因突变会导致同源重组缺陷(HRD),使基因组不稳定性显著增加[3]。 了解BRCA基因突变状态,有助于做好高风险人群的遗传咨询管理,包括制定筛查方案、评估家属遗传风险等。
参考资料: [1] Mystery of breast cancer risk gene solved, 20 years after its discovery [2] BRCA1–BARD1 promotes RAD51-mediated homologous DNA pairing
1.认识你的基因:BRCA1和乳腺癌 2.Breast cancer gene does not boost risk of death: study 3.Breast cancer in young women: do BRCA1 or BRCA2 mutations matter? 4.Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study...
乳腺癌易感基因(breast cancer gene 1,BRCA1)和乳腺癌易感基因2(breast cancer gene 2,BRCA2)在乳腺癌发病、预防、治疗及预后方面扮演重要角色。《肿瘤瞭望》邀请乳腺癌领域大咖、上海瑞金医院李亚芬教授、上海长征医院秦文星教授和复旦大学附属华山医院汪洁教授...
BRCA基因的英文全称是breast cancer susceptibility gene,也叫做乳腺癌易感基因,包括BRCA1和BRCA2,其中BRCA1基因位于第17号染色体,BRCA2基因位于第13号染色体。它们是重要的抑癌基因,其编码产物参与了DNA损伤同源性重组修复(Homologous Recombination Repair, HRR) ,担当着人体“修理工”的角色。因此,BRCA1/2 基因突变...
BRCA 基因全称为乳腺癌易感基因(breast cancer susceptibility gene,BRCA),主要有两种类型:BRCA1、BRCA2,分别在 1990 年和 1994 年研究遗传性乳腺癌相关病因时被发现。 BRCA1/2 基因均在 DNA 损伤修复、细胞的正常生长方面发挥重要作用,具有抑制肿瘤和促进 DNA 损伤修复的作用。一旦发生突变,其 DNA 损伤修复功能受...
BRCA1 and BRCA2 pathogenic variants (PVs) are associated with prostate cancer (PCa) risk, but a wide range of relative risks (RRs) has been reported. We systematically searched PubMed, Embase, MEDLINE and Cochrane Library in June 2021 for studies that es