乳腺癌
癌症研究
雌激素受体
生物
生殖系
种系突变
BRCA2蛋白
细胞周期蛋白依赖激酶
肿瘤科
生物信息学
医学
癌症
内科学
突变
细胞周期
遗传学
基因
作者
Emma Zattarin,Ida Taglialatela,Riccardo Lobefaro,Rita Leporati,Giovanni Fucà,Francesca Ligorio,Caterina Sposetti,Leonardo Provenzano,Jacopo Azzollini,Andrea Vingiani,Cristina Ferraris,Gabriele Martelli,Siranoush Manoukian,Giancarlo Pruneri,Filippo de Braud,Claudio Vernieri
标识
DOI:10.1016/j.critrevonc.2023.104109
摘要
Breast cancers (BCs) arising in carriers of germline BRCA1 and BRCA2 pathogenic variants (PVs) have long been considered as indistinguishable biological and clinical entities. However, the loss of function of BRCA1 or BRCA2 proteins has different consequences in terms of tumor cell reliance on estrogen receptor signaling and tumor microenvironment composition. Here, we review accumulating preclinical and clinical data indicating that BRCA1 or BRCA2 inactivation may differentially affect BC sensitivity to standard systemic therapies. Based on a different crosstalk between BRCA1 or BRCA2 and the ER pathway, BRCA2-mutated Hormone Receptor-positive, HER2-negative advanced BC may be less sensitive to endocrine therapy (ET) plus CDK 4/6 inhibitors (CDK 4/6i), whereas BRCA2-mutated triple-negative breast cancer (TNBC) may be especially sensitive to immune checkpoint inhibitors. If validated in future prospective studies, these data may have relevant clinical implications, thus establishing different treatment paths in patients with BRCA1 or BRCA2 PVs.
科研通智能强力驱动
Strongly Powered by AbleSci AI