ArticleJournal of medical genetics2023
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.Journal of translational medicine · 2025Article
- Distinct age-related effects of homologous recombination deficiency on genomic profiling and treatment efficacy in gastric cancer.Journal of gastroenterology · 2025Article
- The role of multi-organ cancer predisposition genes in the risk of inherited and histologically diverse gastric cancer.EBioMedicine · 2025Article
- Case Report: Clinical impact ofFrontiers in oncology · 2025Article
- Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review.Hereditary cancer in clinical practice · 2024Review
- Review
- Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience.Genes · 2023Article
- Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank.American journal of human genetics · 2023Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundApproximately 10% of gastric cancers (GCs) are associated with strong familial clustering and can be attributed to genetic predisposition. Homologous recombination deficiency (HRD) leads to genomic instability and accumulation of genetic variations, playing an important role in the development and progression of cancer. We aimed to delineate the germline mutation characteristics of patients with HRD-mut GC in Chinese.
methodsWe retrospectively reviewed the genomic sequencing data of 1135 patients with Chinese GC. Patients harbouring at least one loss of function (LoF) germline mutations in
results89 patients were identified with LoF germline mutations of HRD gene. Germline mutations occurred most commonly in
conclusionOur data suggest that carrying both HRD and MMR gene LoF germline mutations may cause early-onset GC. Germline mutations in the HRD gene should be of concern in the study of hereditary GC.
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