Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation
| Autor: | Encarna B. Gomez Garcia, Nicoline Hoogerbrugge, Rachel S. van der Post, Esther van de Vosse, Marjolijn J. L. Ligtenberg, J. Han van Krieken, Ingrid P. Vogelaar |
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| Přispěvatelé: | Klinische Genetica, RS: GROW - Oncology, RS: GROW - R4 - Reproductive and Perinatal Medicine |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Cancer Research
Salmonella infections Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2] DNA Mutational Analysis Biology medicine.disease_cause Immunodeficiency Syndrome Germline mutation Stomach Neoplasms medicine Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] Genetics Mycobacterium infections Humans Genetic Predisposition to Disease Allele Interleukin 12 receptor beta 1 subunit Genetics (clinical) Immunodeficiency Alleles Germ-Line Mutation Aged Netherlands Mutation Immunologic Deficiency Syndromes Receptors Interleukin-12 Interleukin-12 receptor Cancer medicine.disease Human genetics Pedigree Oncology Female Gastric cancer |
| Zdroj: | Familial Cancer, 14, 1, pp. 89-94 Familial Cancer, 14(1), 89-94. Springer, Cham Familial Cancer, 14(1), 89-94 Familial Cancer, 14, 89-94 |
| ISSN: | 1573-7292 1389-9600 |
| DOI: | 10.1007/s10689-014-9764-x |
| Popis: | Contains fulltext : 155337.pdf (Publisher’s version ) (Closed access) IL-12Rbeta1 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-12Rbeta1, 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. |
| Databáze: | OpenAIRE |
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