Article
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation.
Familial cancer - 1 Mar 2015
Vogelaar Ingrid P, van der Post Rachel S, van de Vosse Esther, van Krieken J Han J M, Hoogerbrugge Nicoline, Ligtenberg Marjolijn J L, Gómez García Encarna
Abstract excerpt
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...
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