A Japanese family of hereditary diffuse gastric cancer with a germline pathogenic variant of CTNN1A detected via comprehensive genome profiling.

IF 5.1 1区医学 Q1 GASTROENTEROLOGY & HEPATOLOGY Gastric Cancer Pub Date : 2025-05-01 Epub Date: 2025-01-21 DOI:10.1007/s10120-025-01583-0

Takeshi Kawakami, Hiroyuki Matsubayashi, Yoshimi Kiyozumi, Rina Harada, Eiko Ishihara, Masao Yoshida, Hiroyuki Ono, Etsuro Bando, Masakuni Serizawa, Takashi Sugino

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Abstract

CTNNA1 codes α-1 catenin, a molecule that functions in intercellular adhesion in combination with E-cadherin (coded by CDH1). A germline pathogenic variant (GPV) of CTNNA1 increases the risk of hereditary diffuse gastric cancer (HDGC); however, this GPV has not been reported in Japan. A 35-year-old Japanese man with an advanced gastric cancer underwent comprehensive genome profiling (CGP), which led to the detection of a CTNNA1 GPV (p.Q662*). His gastric cancer tissues demonstrated a loss of α-1 catenin expression. His mother with a history of gastric signet-ring cell carcinoma had undergone genetic counseling 2 years ago, because of her broad family history of young-onset gastric cancer. Then, she had undergone germline multigene panel testing (MGPT) that included CDH1 but not CTNNA1, and no GPV had been detected. Here, Japanese precision cancer medicine revealed a GPV of a gene rarely associated with HDGC, that could not be detected by common MGPTs.

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一个日本家族的遗传性弥漫性胃癌与种系致病变异CTNN1A通过全面的基因组分析检测。

CTNNA1编码α-1 catenin， α-1 catenin与E-cadherin（由CDH1编码）联合起细胞间粘附作用。CTNNA1种系致病变异（GPV）增加遗传性弥漫性胃癌（HDGC）的风险；然而，这种GPV在日本尚未报道。一名35岁的日本晚期胃癌患者进行了全面的基因组分析（CGP），结果检测到CTNNA1 GPV （p.Q662*）。胃癌组织α-1 catenin表达缺失。他的母亲有胃印戒细胞癌的病史，由于她有广泛的早发性胃癌家族史，2年前接受了遗传咨询。然后，她进行了种系多基因面板检测（MGPT），包括CDH1但不包括CTNNA1，未检测到GPV。在这里，日本精准癌症医学揭示了一种与HDGC很少相关的基因的GPV，这种基因不能被普通的mgpt检测到。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gastric Cancer 医学-胃肠肝病学

CiteScore

14.70

自引率

2.70%

发文量

审稿时长

6-12 weeks

期刊介绍： Gastric Cancer is an esteemed global forum that focuses on various aspects of gastric cancer research, treatment, and biology worldwide. The journal promotes a diverse range of content, including original articles, case reports, short communications, and technical notes. It also welcomes Letters to the Editor discussing published articles or sharing viewpoints on gastric cancer topics. Review articles are predominantly sought after by the Editor, ensuring comprehensive coverage of the field. With a dedicated and knowledgeable editorial team, the journal is committed to providing exceptional support and ensuring high levels of author satisfaction. In fact, over 90% of published authors have expressed their intent to publish again in our esteemed journal.