BRCA1 and BRCA2 in breast cancer. By - Prof Wen-Hwa Lee PhD, Thomas G Boyer PhDdoi:10.1016/S0140-6736(01)07018-0W H LeeT G BoyerElsevier Ltd.LancetLee, W. H. , and T. G. Boyer 2001 . BRCA1 and BRCA2 in breast cancer . Lancet 358 ( Suppl) : S5 ....
具体来说,BRCA1突变携带者卵巢癌的风险更高,发病年龄更小;BRCA1突变相关乳腺癌的发病高峰在41至50岁之间,而BRCA2携带者的发病高峰在51至60岁之间。BRCA1通常与三阴性乳腺癌(雌激素受体、孕激素受体和HER2/neu阴性)相关,而BRCA2的雌激素受体通常呈阳性,并且BRCA2突变还会增加胰腺癌和其他癌症的风险。这些细节影响...
BRCA1和BRCA2是乳腺癌易感基因(breast cancer susceptibility gene,BRCA),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(homologous recombination repair)。同源重组缺陷(homologous recombination deficiency,HRD)可以由BRCA1/2基因突变导致,使得基因组不稳定...
[2]Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-2416. doi:10.1001/jama.2017.7112 [3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA...
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BRCA1/2编码产生的蛋白,可以帮助人体修复损伤的DN...
BRCA1 和 BRCA2 致病性变异携带者发生具有不同病理特征和突变特征的乳腺癌,可能导致对化疗的不同反应。本研究纳入了纪念斯隆凯特琳癌症中心 2013 年 11 月至 2022 年 1 月 1 日期间 1426 名接受新辅助化疗(NAC)+手术治疗的临床 I-III 期乳腺癌女性患者(92例 [6.5%] BRCA1 和 73 例[5.1%] BRCA2),比...
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BRCA1/2编码产生的蛋白,可以帮助人体修复损伤的DNA,从而保证细胞遗传物质的稳定性。当受到某种刺激后...
[4]Hu C, Hart SN, Polley EC, et al. Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. JAMA. 2018;319(23):2401-2409. doi:10.1001/jama.2018.6228 [5]Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl ...
The hereditary breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, have established roles in genome integrity maintenance and in the control of homologous recombination. Recent work has produced valuable insights into the mechanisms of action of the gene products. This review summarizes so...
[4]Hu C, Hart SN, Polley EC, et al. Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. JAMA. 2018;319(23):2401-2409. doi:10.1001/jama.2018.6228 [5]Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl ...