ArticleFamilial cancer2023
CDH1 mutations recurrence and global clustering in genetically tested families with hereditary diffuse gastric cancer syndrome: results from a systematic study.
Article in Familial cancer, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Bilateral Prophylactic and Contralateral Risk-Reducing Mastectomy in Women With Germline CDH1 Pathogenic or Likely-Pathogenic Variants.Journal of surgical oncology · 2026Review
- Synergistic potential of CDH3 in targeting CRC metastasis and enhancing immunotherapy.BMC cancer · 2025Article
- Hereditary diffuse gastric cancer: the evolution of a cancer syndrome.Journal of the Royal Society of New Zealand · 2025Review
- Construction and validation of the prognostic nomogram model for patients with diffuse-type gastric cancer based on the SEER database.Discover oncology · 2024Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
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Abstract
The global distribution of germline CDH1 mutations in hereditary diffuse gastric cancer families, is highly heterogenous. The aim of this study was to determine if there is any geographic clustering of CDH1 mutations in families with the hereditary diffuse gastric cancer syndrome. Data from 1998 to 2021 were collected systematically according to the PRISMA guidelines. 571 germline CDH1 mutations were recorded worldwide, with 387 (67.8%) of them reported in 108 families. The largest clusters of CDH1 mutations were identified in central Europe, north America, northern Europe, New Zealand (Māori), and south America. A high penetrance risk for GC development was observed for c.1008G > T in New Zealand (Māori), c.1565 + 2insT in northern Europe, c.1901C > T in Portugal, and c.1003C > T in the USA. Our observations are consistent with a specific local clustering of some recurrent CDH1 mutations within specific countries.
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