Shin Saeam, Kim Yoonjung, Lee Jin Kyung, Lee Kyung-A
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
Department of Laboratory Medicine, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Seoul, Korea.
J Cancer. 2020 Jan 1;11(1):208-212. doi: 10.7150/jca.36513. eCollection 2020.
Germline mutations in are associated with hereditary and early onset- diffuse gastric cancer. However, the frequency of germline mutation in unselected gastric cancer cases is not well established. The aim of this study was to investigate the frequency and clinical characteristics of germline V832M mutation carriers in unselected Korean gastric cancer cases. Direct sequencing was performed to determine the presence of V832M in 305 unselected Korean gastric cancer patients. Lauren's histologic type, family history of gastric cancer, and age of cancer diagnosis were compared between V832M carriers and non-carriers. In the study population, seven gastric cancer patients (7/305, 2.29%) were found to have the V832M mutation. The V832M mutation carrier state was not significantly associated with phenotypes including Lauren's histologic type, family history of gastric cancer, age of cancer diagnosis, and other cancer history in a patient. This study demonstrates that the germline V832M mutation is common in sporadic, late onset, and intestinal type gastric cancer as well as familial, early onset, and diffuse type gastric cancer. Our finding suggests that guidelines for managing mutation carriers should be refined through additional data on penetration according to mutation type in sporadic cases.
种系突变与遗传性和早发性弥漫性胃癌相关。然而，在未选择的胃癌病例中种系突变的频率尚未明确。本研究的目的是调查在未选择的韩国胃癌病例中种系V832M突变携带者的频率和临床特征。对305例未选择的韩国胃癌患者进行直接测序以确定V832M的存在。比较了V832M携带者和非携带者之间的劳伦组织学类型、胃癌家族史以及癌症诊断年龄。在研究人群中，发现7例胃癌患者（7/305，2.29%）存在V832M突变。V832M突变携带者状态与包括劳伦组织学类型、胃癌家族史、癌症诊断年龄以及患者的其他癌症病史等表型无显著相关性。本研究表明，种系V832M突变在散发性、晚发性和肠型胃癌以及家族性、早发性和弥漫型胃癌中均常见。我们的发现表明，应根据散发病例中的突变类型通过更多关于外显率的数据来完善管理突变携带者的指南。
