首页/癌基因/BRCA2/ TRUNCATING MUTATION BRCA1和BRCA2基因的遗传突变会增加患乳腺癌或卵巢癌的终生风险。BRCA1和BRCA2都参与了基因组稳定性的维持,特别是双链DNA修复的同源重组途径。BRCA2蛋白含有一个70 a a基序的几个拷贝,称为BRC基序,这些基序介导了与在DNA修复中起作用的RAD51重组酶的结合。BRCA2被认为是...
Chen, Qijun et al. “Extrarenal Wilms tumor of the recto-vaginal septum with BRCA2 gene mutation: a case report.” International journal of clinical and experimental pathology vol. 16,10 309-313. 15 Oct. 2023
先看下目前BRCA2胚系突变与遗传性肿瘤发病风险的数据(引自权威数据库NCBI-GeneReviews®):相比BRCA2基因野生型人群,携带BRCA2致病性突变的人群罹患卵巢癌、乳腺癌、前列腺癌及胰腺癌的风险大大升高[7]。例如,BRCA2胚系突变的女性人群...
(2009) Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer. Clinical Genetics 76 :10.1111/cge.2009.76.issue-5, 427-430 /Marshall M, Solomon S, Lawrence Wickerham D. Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer. ...
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。
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...
1. Wooster R, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.Science, 1994. 2. Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers.J Natl Cancer Inst,1999. 3. Tutt ANJ, et al. Adjuvant Olaparib for Patients with BRCA1-...
The findings from this study significantly contribute to our knowledge on VUS in the BRCA2 gene. Moreover, through analyzing of the impact and domain function both prior to and following the amino acid mutation, we can clarify how the substitution of amino acids contributes to the occurrence ...
The invention discloses a breast carcinoma gene BRCA1/BRCA2 mutation detection kit. The kit includes three primer pairs for specific amplification of BRCA1 / BRCA2 gene targeting sequences; a primer pair1 is F:GGTTGGCAGCAATATGTG; and R:AGAGGCAGAGTGGATGGA; a primer pair2 is: F:CTCTTAT...
关于BRCA1/2,你需要知道的十个问题! 公众号 一、BRCA1和BRCA2是什么? 乳腺癌易感基因(breastcancer susceptibility gene,BRCA)包括BRCA1和BRCA2,是重要的抑癌基因,其编码产物参与DNA损伤同源性重组修复。BRCA1/2其实“人性本善”,它们是抑制肿瘤生长的基因,由BR...