摘要3323:检测家族性胃癌遗传基因发现的可行性

Sadaaki Nishimura
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摘要

背景:在日本,使用新一代测序技术的多重基因面板检测目前已用于包括胃癌在内的各种癌症患者的临床应用。多重基因面板测试的最初目的是发现可能与有希望的治疗性抗肿瘤药物相关的可操作的基因改变。因此,与遗传性疾病相关的生殖系突变等继发性遗传发现也可通过多重基因组试验检测到。据报道,家族性癌症约占所有癌症患者的5%-10%。胃癌是日本常见的癌症之一。家族性胃癌(FGC)患者在多重基因面板检测前的预测可能对患者及其家庭的基因咨询具有重要意义。目的:探讨胃癌的特征性临床病理特征,预测遗传性胃癌的可能性。患者与方法:本研究共纳入2301例在我科行胃切除术的胃癌患者。根据国际胃癌连锁联盟(IGCLC)的修改,我们将FGCs分为2类,其中不包括致病类型:A组:40岁以下个体的胃癌;B组:同一家庭2例胃癌,不论年龄。以散发性胃癌居多,归为c组。回顾性比较3组患者E-cadherin和p53免疫染色表达的临床病理因素。结果:2301例患者中152例(6.6%)被分类为FGCs (A组:71例;B组81例),C组2149例(93.4%)。女性占43.4%,弥漫性胃癌占57.2% (p)。家族性胃癌遗传基因发现检测的可行性[摘要]。摘自:2019年美国癌症研究协会年会论文集;2019年3月29日至4月3日;亚特兰大,乔治亚州。费城(PA): AACR;癌症杂志,2019;79(13增刊):摘要nr 3323。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Abstract 3323: The feasibility for detecting hereditary genetic findings of familial gastric cancer
Background: Multiplex gene panel tests using next-generation sequencing has currently been clinically available for various cancer patients including gastric cancer in Japan. The original purpose of the Multiplex gene panel tests is to find actionable genetic alterations which might correlate with promising therapeutic antitumor drugs. Accordingly, secondary genetic findings as germline mutation which is associated with hereditary disease may also be detectable by the Multiplex gene panel tests. It has been reported that familial cancers represent around 5%–10% of all cancer patients. Gastric cancer is one of popular cancers in Japan. The prediction of patients with familial gastric cancer (FGC) before the multiplex gene panel tests might be important for the gene consultation for the patients and their family. Objective: The aim of study is to clarify the characteristic clinico-pathologic features of FGC to predict the possibility of hereditary gastric cancer. Patients and Methods: A total of 2301 gastric cancer patients who received gastrectomy at our department was enrolled in this study. We classified FGCs into 2 categories by modification of International Gastric Cancer Linkage Consortium (IGCLC) which excluded pathogenic types, as follows, group A: gastric cancer in an individual under the age of 40; group B: two gastric cancer cases in a family regardless of age. In contrast, the most gastric cancers were sporadic, which was classified as group C. The clinicopathological factors including E-cadherin and p53 expression by immunostaining, was retrospectively compared among 3 groups. Results: One hundred and fifty-two cases (6.6%) of 2301 patients were classified as FGCs (group A: 71 cases; group B: 81 cases), whereas the remaining 2149 patients were classified as group C (93.4%). Female (43.4%) and diffuse-type gastric cancer (57.2%) was significantly (p Conclusion: Young age ( Citation Format: Sadaaki Nishimura. The feasibility for detecting hereditary genetic findings of familial gastric cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 3323.
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