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◆ European Journal of Human Genetics2026-05-12· Medicine

Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1

Paul C. Lott, Luis G. Carvajal-Carmona

原始摘要(英文原文)· Original abstract
The recently published article “Exome sequencing points to pathogenic ATM variants in gastric cancer” by Koebbe et al. [ 1 ] provides critical evidence and expands our understanding of ATM ’s role in hereditary gastric cancer. Using germline exome data from a large multicenter study of early‑onset gastric cancer patients who were not selected for a known monogenic tumor syndrome and in whom no first‑degree relative with gastric cancer or other cancers suggestive of a hereditary cancer syndrome was reported, along with population‑scale data from gnomAD and the UK Biobank, the study found that pathogenic loss‑of‑function ATM variants were significantly enriched in gastric cancer patients [ 1 ].
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