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Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.
Yasar, Binnaz; Byers, Helen J; Smith, Miriam J; Lear, John; Oudit, Deemesh; Bholah, Zaynab; Roberts, Stephen A; Newman, William G; Evans, D Gareth.
Afiliación
  • Yasar B; 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
  • Byers HJ; 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
  • Smith MJ; 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
  • Lear J; Department of Dermatology, Central Manchester University Hospitals NHS Foundation Trust (CMFT), Manchester, UK.
  • Oudit D; Department of Surgery, The Christie NHS Foundation Trust, MAHSC, Manchester, UK.
  • Bholah Z; Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
  • Roberts SA; Centre for Biostatistics, Institute of Population Health, University of Manchester, Manchester, UK.
  • Newman WG; 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
  • Evans DG; 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
Eur J Hum Genet ; 23(5): 708-10, 2015 May.
Article en En | MEDLINE | ID: mdl-25159867
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Carcinoma Basocelular / Síndrome del Nevo Basocelular Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Carcinoma Basocelular / Síndrome del Nevo Basocelular Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido