[Abstract]Germline mutations inBRCAgenes (includingBRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population basedBRCAgene screening, particularly in high-risk individuals with a ...
BRCA1/2 gene mutation testing- based cancer prevention and moral concerns of different types of patients. Ann NY Acad Sci 1999;889:240-3.Goelen G, Rigo A, Bonduelle M, De Greve J. BRCA 1/2 gene mutation testing-based cancer prevention and the moral concerns of different types of ...
BRCA基因,全称“乳腺癌易感基因”(Breast Cancer Gene),包括两个基因:BRCA1和BRCA2,分别位于人类染色体17q21上和13q12上,是与卵巢癌和乳腺癌发生密切相关的抑癌基因,就像体内细胞的“修理工”,能生产肿瘤抑制蛋白,专门负责修复损伤的双链DNA,细胞周期调控等,并及时修复“生病”的细胞,避免其进一步发展为肿瘤细胞。...
BRCA1和BRCA2基因检测通常是通过血液或唾液样本获取DNA细胞来进行的。运用PCR技术,包括但不限于阴性外切...
breastandovariancancer.PopulationbasedBRCAgenescreening,particularlyinhigh-riskindividualswithafamilyhistoryof cancer,canplayapreventiverolebyreducingmortalityandsocietalimpactofthesegeneticdiseases.Recentyearshavewitnessedthe increasingaccessibilityofBRCAgermlinemutationtestingbasedonnextgenerationsequencingtechnology.Tofurtherstan...
[Abstract]Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can play a preventive role by reducing ...
Waiting for Genetic Testing Results Though my incredible breast surgeon,Dr. Beth Dupree, tested me for a BRCA gene mutation that first day we met, and though she contacted the company she trusts most,Myriad Oncology, personally and put a rush on it, it wasn’t until two weeks later I fou...
testing in the population, including screening scenarios, technical approaches, quality control, result interpretation and reporting, as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-based BRCA germline mutation screening in ...
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...
can play a preventive role by reducing mortality and societal impact of these genetic diseases. Recent years have witnessed the increasing accessibility ofBRCAgermline mutation testing based on next generation sequencing technology. To further standardize the workflow forBRCAgermline mutation screening in th...