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<p><i>CTNNA1</i> codes α-1 catenin, a molecule that functions in intercellular adhesion in combination with E-cadherin (coded by <i>CDH1</i>). A germline pathogenic variant (GPV) of <i>CTNNA1</i> 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 <i>CTNNA1</i> 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&#xa0;years ago, because of her broad family history of young-onset gastric cancer. Then, she had undergone germline multigene panel testing (MGPT) that included <i>CDH1</i> but not <i>CTNNA1</i>, 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.</p>

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

  • 期刊论文

  • 发表日期：

    2025年1月21日

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

摘要

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.