BRCA1 和 BRCA2 的致病性突变是卵巢癌发生的最强的遗传相关危险因素。 本期我们邀请来自哈尔滨医科大学附属肿瘤医院的郭莉媛教授来分享由其参与的研究——中国 non-gBRCA 基因突变卵巢癌患者的致病性突变回顾分析(Retrospective analysis of no...
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains...
图4. BRCA1/2胚系突变与癌症的发生风险(NCBI, GeneReviews®) 日本一项大型研究对14种常见癌症类型共63828例患者和37086例对照进行了大规模测序[8],探索了BRCA1/2基因突变与肿瘤发生的关系,发现BRCA2胚系致病性突变与至少7种癌症...
Human MutationArmakolas, A, Ladopoulou, A, Konstantopoulou, I, Pararas, B, Gomatos, IP, Kataki, A, Konstadoulakis, MM, Stathopoulos, GP, Markopoulos, C, Leandros, E, Gogas, I, Yannoukakos, D, Androulakis, G (2002) BRCA2 gene mutations in Greek patients with familial breast ...
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains...
参考文献: 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
在1989年的诺贝尔生理医学奖被授予发现原癌基因的J Michael Bishop和Harold Varmus之前,科学家们就已经定位了数十个致癌基因,第一个抑癌基因Rb-1更是早在1984年就被分离出来,而经典的抑癌基因BRCA1和BRCA2的故事要从1990年加州大学伯克利分校的Mary-claire King团队发现人类染色体17q21可能是早发性遗传性乳腺癌易感...
做了这么多的铺垫,终于到了我们的“正餐”——BRCA基因,BRCA基因是Breast Cancer Gene的简称,中文意为乳腺癌基因。 而在浩如烟海的人类基因之中,其发现人玛丽-克莱尔·金(Mary-ClaireKing)于1990年首次定位到了在第17号染色体上的BRCA1基因,不久之后人们又发现了位于13号染色体上的BRCA2基因。
“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发布于 2023-12-28 14:34・IP 属地江苏 基因检测 罕见肿瘤 肾母细胞瘤...
[6] O'Donovan PJ, Livingston DM. BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair. Carcinogenesis. 2010;31(6):961-967. doi:10.1093/carcin/bgq069 [7] Grinda T, Delaloge S. BRCA2: a 25-year journey from gene...