胃癌风险与BRCA1/2突变：一项系统综述与荟萃分析
Gastric cancer risk and BRCA1/2 mutations: a systematic review and meta-analysis.
作者信息
de Moraes Francisco Cezar Aquino, Matheus Gustavo Tadeu Freitas Uchôa, Souza Maria Eduarda Cavalcanti, Burbano Rommel Mario Rodriguez
机构信息
Department of Medicine, Federal University of Pará, Belém, Pará, Brazil.
Department of Medicine, Federal University of Triângulo Mineiro, Uberaba, Minas Gerais, Brazil.
出版信息
Per Med. 2025 Aug;22(4):245-256. doi: 10.1080/17410541.2025.2531737. Epub 2025 Jul 13.
BACKGROUND
Gastric cancer is an aggressive and heterogeneous disease, primarily sporadic, with only 1-3% of cases being hereditary. However, gastric cancer is a component of several hereditary cancer syndromes. The BRCA1 and BRCA2 genes encode key DNA repair proteins involved in homologous recombination. Studies suggest a significantly increased risk of gastric cancer in first-degree relatives of BRCA1/2 mutation carriers.
METHODS
We systematically searched PubMed, Scopus, and Web of Science for relevant studies. Risk ratios (RRs) with 95% confidence intervals (CIs) were computed using DerSimonian and Laird random-effect models. Heterogeneity was assessed via I statistics. Statistical analyses were performed using R (version 4.2.3).
RESULTS
Fourteen studies with 160,551 patients were included, of whom 25,934 had BRCA1/2 mutations (BRCA1: 14322; BRCA2: 11612). BRCA1 and BRCA2 mutations were significantly associated with increased gastric cancer risk (RR 2.30; 95% CI: 1.33-3.97; = 0.003; I = 82% and RR 2.45; 95% CI: 1.82-3.28; < 0.001; I = 25%). Among the gastric cancer patients, BRCA1 and BRCA2 mutations were associated with RRs of 3.02 ( = 0.101; I = 65%) and 4.86 ( < 0.001; I = 0%), respectively.
CONCLUSIONS
This meta-analysis suggests that BRCA1/2 mutation carriers have a higher risk of developing gastric cancer.
背景
胃癌是一种侵袭性且异质性的疾病，主要为散发性，仅有1%-3%的病例为遗传性。然而，胃癌是几种遗传性癌症综合征的组成部分。BRCA1和BRCA2基因编码参与同源重组的关键DNA修复蛋白。研究表明，BRCA1/2突变携带者的一级亲属患胃癌的风险显著增加。
方法
我们系统检索了PubMed、Scopus和Web of Science以查找相关研究。使用DerSimonian和Laird随机效应模型计算95%置信区间（CI）的风险比（RR）。通过I统计量评估异质性。使用R（版本4.2.3）进行统计分析。
结果
纳入了14项研究，共160551例患者，其中25934例有BRCA1/2突变（BRCA1：14322例；BRCA2：11612例）。BRCA1和BRCA2突变与胃癌风险增加显著相关（RR 2.30；95% CI：1.33-3.97；P = 0.003；I² = 82%）以及RR 2.45；95% CI：1.82-3.28；P < 0.001；I² = 25%）。在胃癌患者中，BRCA1和BRCA2突变分别与RR 3.02（P = 0.101；I² = 65%）和RR 4.86（P < 0.001；I² = 0%）相关。
结论
这项荟萃分析表明，BRCA1/2突变携带者患胃癌的风险更高。
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