ImportanceHalf of all carriers of inherited cancer-predisposing variants inBRCA1andBRCA2are male, but the implications for their health are underrecognized compared to female individuals. Germline variants inBRCA1andBRCA2(also known as pathogenic or likely pathogenic variants, referred to here asBRCA1...
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 ...
BRCA1和BRCA2是引起乳腺癌和卵巢癌的“明星基因”,约6%的乳腺癌和10-20%的卵巢癌是由可遗传的BRCA1/2基因突变引起的。 在80岁以前,携带BRCA1/2突变的女性罹患乳腺癌的风险为69-72%,罹患卵巢癌的风险为17-44%。 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...
Introduction: BRCA1/BRCA2 mutation carriers indefinitely comprise a distinct group of patients with breast cancer (BC), with their tumors displaying specific pathologic characteristics. Although these connections are known, they are not fully elucidated. We therefore sought to investigate the ...
BRCA1和BRCA2是引起乳腺癌和卵巢癌的“明星基因”,约6%的乳腺癌和10-20%的卵巢癌是由可遗传的BRCA1/2基因突变引起的。 在80岁以前,携带BRCA1/2突变的女性罹患乳腺癌的风险为69-72%,罹患卵巢癌的风险为17-44%。 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...
研究发现,与未携带BRCA变异(wtBRCA)的患者相比,携带BRCA1、BRCA2或PALB2致病变异的患者更可能表现出RB1基因的突变,而PIK3CA和TP53基因的突变则较少见。 此外,免疫细胞景观分析显示,携带致病变异的患者肿瘤微环境中CD8 T细胞、NK细胞和M2型巨噬细胞更为丰富,而中性粒细胞则较少。mBRCA+患者(与WT相比)的TMB-High...
BRCA1和BRCA2是引起乳腺癌和卵巢癌的“明星基因”,约6%的乳腺癌和10-20%的卵巢癌是由可遗传的BRCA1/2基因突变引起的。 在80岁以前,携带BRCA1/2突变的女性罹患乳腺癌的风险为69-72%,罹患卵巢癌的风险为17-44%。 如果能够在突变...
2.2 BRCA1/2突变患者对侧乳腺预防性切除 BRCA1/2突变患者对侧乳腺癌的发生风险高于非携带者。前瞻性研究表明BRCA1和BRCA2突变患者发生首次乳腺癌后20年对侧乳腺癌发病风险分别为40%和25%[19]。中国BRCA1和BRCA2突变患者在首次诊断...
Cancers Associated with BRCA1 and BRCA2 Mutations other than Breast and Ovarian. Cancer. 2015 January 15; 121(2): 269–275. [3]《基于下一代测序技术的BRCA1/2基因检测指南(2019版)》编写组. 基于下一代测序技术的BRCA1/2基因检测指南(2019版)[J]. 中华病理学杂志, 2019, 48(9):670-677. [...
(21.7% vs. 14.0%, P=0.001). Independent factors associated with pCR in BRCA1 and BRCA2 mutation-negative breast cancer patients were tumor size less than 2 cm (P=0.012), histologic grade Ⅲ (P<0.001), triple-negative breast cancers (P<0.001), and BRCA1 and BRCA2 mutation-negative ...