Abstract：
Carriers of a pathogenic germline variant (PV) in BRCA1 or BRCA2 are at increased risk for a number of malignancies, including breast, ovarian, pancreatic, and prostate cancer. In this review, we discuss emerging evidence that BRCA2 PV carriers, and likely also BRCA1 PV carriers, are also at increased risk for gastric cancer (GC), highlighting that GC may be part of the BRCA1/2 cancer risk spectrum. While the pathogenesis of GC among BRCA1/2 PV carriers remains unclear, increasing evidence reveals that GCs are often enriched with mutations in homologous recombination-associated genes such as BRCA1/2, and that GC prognosis and response to certain therapies can depend on BRCA1/2 expression. Given the strength of data published to date, a risk management strategy for GC among BRCA1/2 PV carriers is needed, and herein we also propose a potential strategy for GC risk management in this population. Moving forward, further study is clearly warranted to define the mechanistic relationship between BRCA1/2 PVs and development of GC as well as to determine how GC risk management should be factored into the clinical care of BRCA1/2 carriers.
摘要：
BRCA1或BRCA2中致病性种系变异体（PV）的携带者患多种恶性肿瘤的风险增加，包括乳房,卵巢,胰腺,和前列腺癌。在这次审查中,我们讨论了新兴的证据，即BRCA2光伏运营商，也可能是BRCA1光伏运营商，患胃癌(GC)的风险也增加，强调GC可能是BRCA1/2癌症风险谱的一部分。虽然BRCA1/2PV携带者中GC的发病机制尚不清楚，越来越多的证据表明,GCs通常富含BRCA1/2等同源重组相关基因的突变,而GC的预后和对某些治疗的反应可能取决于BRCA1/2的表达.鉴于迄今为止公布的数据的强度，BRCA1/2光伏运营商之间的GC风险管理策略是必要的，在此，我们还提出了在这一人群中进行GC风险管理的潜在策略。往前走,明确需要进一步研究以确定BRCA1/2PV与GC发展之间的机制关系,以及确定如何将GC风险管理纳入BRCA1/2携带者的临床治疗.
