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Publication year
2009Author(s)
Source
Nature Genetics, 41, 8, (2009), pp. 909-14ISSN
Publication type
Article / Letter to editor
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Organization
Surgery
Dermatology
Health Evidence
Urology
Former Organization
Epidemiology, Biostatistics & HTA
Journal title
Nature Genetics
Volume
vol. 41
Issue
iss. 8
Page start
p. 909
Page end
p. 14
Subject
N4i 4: Auto-immunity, transplantation and immunotherapy; NCEBP 1: Molecular epidemiology; ONCOL 1: Hereditary cancer and cancer-related syndromes; ONCOL 3: Translational research; ONCOL 5: Aetiology, screening and detectionAbstract
In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.
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