Introduction: There is some evidence suggesting a link between BRCA1/2 germline mutations and increased risk of gastric cancer. Methods: Endoscopic screening for stomach malignancies was performed in 120 BRCA1 mutation carriers in order to evaluate the probability of detecting the tumor disease. Results: No instances of gastric cancer were revealed at the first visit. The analysis of atrophic changes performed by OLGA (Operative Link for Gastritis Assessment) criteria revealed that OLGA stages I–IV alterations were observed in 26 of 41 (63%) subjects aged >50 years as compared to 29 of 79 (37%) in younger subjects (p = 0.007, χ2 test). One BRCA1 mutation carrier developed gastric cancer 4 years after the first visit for endoscopic examination. We performed next-generation sequencing analysis for this tumor and additional 4 archival gastric cancers obtained from BRCA1/2 mutation carriers. Somatic loss of the remaining BRCA1/2 allele was observed in 3 out of 5 tumors analyzed; all of these carcinomas, but none of the malignancies with the retained BRCA1/2 copy, showed chromosomal instability. Conclusion: Taken together, these data justify further studies on the relationships between the BRCA1/2 and gastric cancer.

中文翻译：

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BRCA1种系突变携带者中的胃癌：肿瘤组织的内窥镜筛查和分子分析结果

简介：有一些证据表明 BRCA1/2 种系突变与胃癌风险增加之间存在联系。方法：对120例BRCA1突变携带者进行胃部恶性肿瘤的内镜筛查，以评估检出肿瘤疾病的概率。结果：首次就诊时未发现胃癌病例。根据 OLGA（胃炎评估手术链接）标准对萎缩性变化进行的分析显示，41 名年龄 >50 岁的受试者中有 26 名（63%）观察到 OLGA I-IV 期改变，而 79 名受试者中的 29 名（37%）在年轻受试者（p = 0.007，χ2 检验）。一名 BRCA1 突变携带者在第一次内镜检查后 4 年发展为胃癌。我们对该肿瘤和从 BRCA1/2 突变携带者获得的另外 4 例存档胃癌进行了下一代测序分析。在所分析的 5 个肿瘤中的 3 个中观察到剩余 BRCA1/2 等位基因的体细胞丢失；所有这些癌，但没有保留 BRCA1/2 拷贝的恶性肿瘤，表现出染色体不稳定性。结论：综合起来，这些数据证明进一步研究 BRCA1/2 与胃癌之间的关系是合理的。