Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation

Ingrid P. Vogelaar, Rachel S. van der Post, Esther van de Vosse, J. Han J. M. van Krieken, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Encarna Gomez Garcia*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


IL-12R beta 1 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-12R beta 1, 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.
Original languageEnglish
Pages (from-to)89-94
JournalFamilial Cancer
Issue number1
Publication statusPublished - Mar 2015


  • Gastric cancer
  • Interleukin-12 receptor
  • Genetics
  • Salmonella infections
  • Mycobacterium infections


Dive into the research topics of 'Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation'. Together they form a unique fingerprint.

Cite this