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    Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.

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    Authors
    Yasar, B
    Byers, H
    Smith, M
    Lear, J
    Oudit, Deemesh
    Bholah, Z
    Roberts, S
    Newman, W
    Evans, D
    Affiliation
    1] Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK [2] Department of Genetic Medicine, Manchester Centre for Genomic Medicine, MAHSC, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust (CMFT), Manchester, UK.
    Issue Date
    2014-08-27
    
    Metadata
    Show full item record
    Abstract
    Gorlin syndrome is an autosomal dominant disorder, characterized by multiple early-onset basal cell carcinomas (BCCs) and jaw keratocysts. Through association studies in cohorts of sporadic BCC, nine genetic variants have previously been identified to increase the risk of BCC. The nine SNPs were genotyped by Taqman allelic discrimination in 125 individuals with Gorlin syndrome. Kaplan-Meier survival curves and Cox proportional-Hazard regression analysis were applied to determine the association between genotypes and age of first BCC in individuals with Gorlin syndrome. The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of BCC of 27 years (95% CI: 20-34) compared with 34 years (95% CI: 30-40) for wild-type individuals (hazard ratio (HR)=1.64, 95% CI: 1.04-2.58, P=0.034). The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years (95% CI: 28-37) compared with 41 years (95% CI: 32-48, HR=1.44, 95% CI: 1.08-1.93, P=0.014). In individuals with a risk allele at either rs1805007 or rs401681 the median time to BCC was 31 years of age (95% CI: 28-34) compared with 44 years of age (95% CI: 38-53) in wild-type individuals (HR=2.48, 95% CI: 1.47-4.17, P=0.0002). Our findings may have implications for future personalized risk estimates and BCC screening strategies in individuals with Gorlin syndrome.European Journal of Human Genetics advance online publication, 27 August 2014; doi:10.1038/ejhg.2014.167.
    Citation
    Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome. 2014: Eur J Hum Genet
    Journal
    European Journal of Human Genetics
    URI
    http://hdl.handle.net/10541/326340
    DOI
    10.1038/ejhg.2014.167
    PubMed ID
    25159867
    Type
    Article
    Language
    en
    ISSN
    1476-5438
    ae974a485f413a2113503eed53cd6c53
    10.1038/ejhg.2014.167
    Scopus Count
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