Risk-Reducing Mastectomyin BRCA1 and BRCA2Mutation Carriers,JAMA. doi:10.1001/jama.2018.18942
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...
Our study reported 30% incidence of germline BRCA mutation, whereas variants of undetected significance (VUS) was reported in 4 patients. 73.33% of the patients had (22/30) BRCA 1 gene mutations and 26.67% (8/30) of the patients harboured mutations in BRCA 2 gene. Expectedly frameshift ...
BRCA1 and BRCA2 mutation-negative familial breast cancer is more likely diagnosed before the age of 30 years and has a higher risk to develop bilateral breast cancer. BRCA1 and BRCA2 mutation-negative familial breast cancers are more likely to respond to neoadjuvant chemotherapy than BRCA1 and ...
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...
比较BRCA1/2突变异时性双乳癌的首发癌和对侧癌临床病理特征。约60%的BRCA1突变患者为三阴性乳腺癌。如果发生对侧乳腺癌,有近89.5%概率为三阴性乳腺癌。
Immune checkpoint blockade (ICB) has improved outcomes for patients with advanced cancer, but the determinants of response remain poorly understood. Here we report differential effects of mutations in the homologous recombination genesBRCA1andBRCA2on response to ICB in mouse and human tumors, and furt...
[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...
如果能够在突变携带者患病之前通过BRCA1/2基因检测筛选出突变携带者，则可以通过药物，增加筛查或手术等方式来预防数百万癌症的发生。2020年7月，英国玛丽皇后大学的科研人员在" Cancers"杂志上在线发表了题为"Economic Evaluation of Population-Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health ...
研究团队对27例BRCA1 / 2突变携带者的67个配对原发性和复发性乳腺癌、卵巢癌进行多组学测序,以确定潜在的复发特异性驱动因素。鉴定出在复发过程中显著过表达的PARP1基因;发现两种BRCA2亚型(BRCA2-201/Long和BRCA2-001/Short),BR...