BRCA1 和 BRCA2 基因(BReast CAncer gene,乳腺癌基因)在 DNA 修复和维持基因组稳定性方面起着关键作用,其变异与多种癌症的发生密切相关,尤其是遗传性乳腺癌和卵巢癌(Hereditary breast and ovarian cancer,HBOC)。不仅如此,携带 BRCA 变异的个体患前列腺癌和胰腺癌的风险也会显著增加。不过,携带 BRCA 变异的癌症患...
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 损伤同源性重组修复。 BRCA1/2 基因 突变会导致同源重组缺陷(homologous recombination deficiency,HRD),使得基因组不稳定性显著增加。BR...
BRCA是Breast Cancer Susceptibility Gene,翻译成中文就是指乳腺癌易感基因。 BRCA包括BRCA1和BRCA2,是人体内重要的抑癌基因,其编码的产物参与DNA损伤同源性重组修复。 DNA损伤修复示意图 艾宝顿医生,您看我得的是卵巢癌,怎么却是乳腺癌相关易感基因...
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
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。
其中BRCA1和BRCA2 Gene是人类染色体上两个重要的癌症发生基因，其中BRCA1检测很好地控制着发生乳腺癌的...
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
cancer; gene alterations, homologous recombination deficiency and combination therapy[J]. Jap J Clin Oncol, 2019;49(8):703-707. DOI:10.1093/jjco/hyz090. [5] Garcia-Sampedro A, Gaggia G, Ney A, et al. The State-of-the-Art of phase Ⅱ/Ⅲ clinical trials for targeted pancreatic cancer...
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-...
Five DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2?(omi1-5)¿ and the ten polymorphic sites will provide accuracy and reliability for genetic testing....