title: NOD2 variants and the risk of malignant melanoma.
abstract: Both hereditary and environmental factors are important in the aetiology of malignant melanoma. Among the risk factors for malignant melanoma are immunodeficiency and immunosuppression. The recently identified NOD2 gene is involved in the regulation of immune function through activation of the transcription factor nuclear factor-kappaB (NF-kappaB). Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with chronic inflammatory disease such as Crohn's disease, the 3020insC also with human malignancy colorectal cancer. We examined the frequency of the NOD2 variants in 424 patients with malignant melanoma and 649 controls. The 3020insC mutation was present in 6.9% of unselected cases and 7% of the controls (odds ratio (OR) 1.0; P not significant). The mutation was present in 6.8% of 162 cases diagnosed under the age of 50 and in 7.1% of cases diagnosed after the age of 50. A mutation was present in the index case in 5% of 40 familial melanomas (OR 0.7; P not significant). There were no statistically significant differences between prevalence of G908R and R702W in malignant melanoma patients and controls. In conclusion, the three common NOD2 mutations are not associated with increased risk of development of malignant melanoma.
authors.affiliation: Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland. debniak@wp.pl
authors.forename: T
authors.initials: T
authors.lastname: Debniak
authors.forename: G
authors.initials: G
authors.lastname: Kurzawski
authors.forename: T
authors.initials: T
authors.lastname: Huzarski
authors.forename: T
authors.initials: T
authors.lastname: Byrski
authors.forename: J
authors.initials: J
authors.lastname: Gronwald
authors.forename: B
authors.initials: B
authors.lastname: Debniak
authors.forename: A
authors.initials: A
authors.lastname: Rozmiarek
authors.forename: I
authors.initials: I
authors.lastname: Dziuba
authors.forename: E
authors.initials: E
authors.lastname: Złowocka
authors.forename: J
authors.initials: J
authors.lastname: Suchy
authors.forename: B
authors.initials: B
authors.lastname: Górski
authors.forename: C
authors.initials: C
authors.lastname: Cybulski
authors.forename: M
authors.initials: M
authors.lastname: Mierzejewski
authors.forename: B
authors.initials: B
authors.lastname: Masojć
authors.forename: K
authors.initials: K
authors.lastname: Medrek
authors.forename: O
authors.initials: O
authors.lastname: Oszurek
authors.forename: J
authors.initials: J
authors.lastname: Lubiński
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D003424:Crohn Disease / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008545:Melanoma / Q000209:etiology* / Q000235:genetics*; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein; D012307:Risk Factors; D012878:Skin Neoplasms / Q000209:etiology* / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein