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...
Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer in carrier women. An understanding of behavioral responses to BRCA1 mutation testing by mutation carriers and non‐carriers is important to guide the clinical application of this new technology. This ...
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。...
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...
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...
导读:BRCA1/2基因是抑制肿瘤发生的抑癌基因。当BRCA1/2发生基因突变后,其抑制肿瘤发生的功能受到影响,导致基因功能缺陷,从而诱发一系列的癌症,其中最主要的就是遗传性乳腺癌及卵巢癌。已发现的BRCA1基因变异有数千种,但许多都被列为“意义未明的变异”,给患癌风险评估带来了巨大挑战。近日,美国华盛顿大学的研究人员...
of a viable individual with two mutated copies of the brca1 gene [8], although screening of lymphocyte DNA from patients in Scotland with breast or ovarian cancer revealed a woman who lacked the wild-type allele for brca1, and was the offspring of two carriers of the brca1 mutation [9]...
testing results and may initiate behavioral and lifestyle changes. The patients with a BRCA1/2 mutation desire knowledge with regard to genetic aspects in mainland China. Professional information and advice can be provided to relieve the patients' negative emotions when they were informed of gene ...
关键词:BRCA1基因;BRCA2基因;乳腺肿瘤;遗传变异中图分类号:R737.9文献标识码:A文章编号:1009—5551(2013)l01442—05StudyonmutationtestofBRCA1/2geneofhereditarybreastcancerinXinjiangWuTao,OuJianghua,HamratWufuer,XuWenting,ChenLing,NiDuo(DepartmentofBreastSurgery,AffiliatedTumourHospital,XinjiangMedicalUniversity,...
Complicating factors such as the possibility of dealing with more than one mutation within one kindred, skipped generations (as daughters of healthy elderly women in these families, are not offered follow-up, having a low probability of being gene carriers), need to be considered. We present a...