ArticleFamilial cancer2015
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation.
Article in Familial cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Gastric cancer in China: Epidemiology, risk factors, and screening.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2025Article
- Gastric Cancer Screening in the United States: A Review of Current Evidence, Challenges, and Future Perspectives.The American journal of gastroenterology · 2025Review
- Hereditary Gastrointestinal Tumor Syndromes: When Risk Comes with Your Genes.Current issues in molecular biology · 2024Review
- Gastric Cancer Genetics and Its Implications for Diagnosis, Prognosis, and Treatment of the Disease.The Korean journal of helicobacter and upper gastrointestinal research · 2024Review
- Global burden of gastric cancer: epidemiological trends, risk factors, screening and prevention.Nature reviews. Clinical oncology · 2023Review
- Helicobacter pylori-Induced Host Cell DNA Damage and Genetics of Gastric Cancer Development.Current topics in microbiology and immunology · 2023Article
- rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis.Frontiers in genetics · 2022Article
- Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.Journal of clinical medicine · 2020Review
- Hereditary gastric cancer: what's new? Update 2013-2018.Familial cancer · 2019Review
- Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.Nature communications · 2016Article
- Hereditary diffuse gastric cancer: What the clinician should know.World journal of gastrointestinal oncology · 2015Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
IL-12Rβ1 deficiency, also known as immunodeficiency 30 (IMD30, OMIM 614891), is a rare immunodeficiency syndrome caused by biallelic mutations in IL12RB1. Three second-degree relatives of a patient with this syndrome, all women, developed intestinal-type gastric cancer (GC). In the Netherlands the incidence of non-cardia GC in women is only 7 per 100,000 person years. Both relatives that were available for testing proved to be heterozygous for the familial IL12RB1 mutation, suggesting there might be a causal relation. Testing 29 index patients from families with early onset and/or a familial history of GC for germline mutations in both IL12RB1 and IL12RB2, that encodes the binding partner of IL-12Rβ1, did not reveal other germline mutations in these genes. Therefore heterozygous inactivating mutations in IL12RB1 and IL12RB2 are unlikely to be frequently involved in GC predisposition. Additional research in families with IL12RB1 mutations is required to determine whether carriers of IL12RB1 mutations have an increased (gastric) cancer risk.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.