TY - JOUR
T1 - Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation
AU - Vogelaar, Ingrid P.
AU - van der Post, Rachel S.
AU - van de Vosse, Esther
AU - van Krieken, J. Han J. M.
AU - Hoogerbrugge, Nicoline
AU - Ligtenberg, Marjolijn J. L.
AU - Garcia, Encarna Gomez
PY - 2015/3
Y1 - 2015/3
N2 - 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.
AB - 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.
KW - Gastric cancer
KW - Interleukin-12 receptor
KW - Genetics
KW - Salmonella infections
KW - Mycobacterium infections
U2 - 10.1007/s10689-014-9764-x
DO - 10.1007/s10689-014-9764-x
M3 - Article
C2 - 25467645
SN - 1389-9600
VL - 14
SP - 89
EP - 94
JO - Familial Cancer
JF - Familial Cancer
IS - 1
ER -