Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 27539887.
- Also identified by DOI 10.1038/ncomms12510 and PMC identifier 4992160.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Basal cell carcinoma (BCC) is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies have demonstrated an association between 21 distinct genetic loci and BCC risk. Here, we report the results of a two-stage genome-wide association study of BCC, totalling 17,187 cases and 287,054 controls. We confirm 17 previously reported loci and identify 14 new susceptibility loci reaching genome-wide significance (P<5 × 10(-8), logistic regression). These newly associated SNPs lie within predicted keratinocyte regulatory elements and in expression quantitative trait loci; furthermore, we identify candidate genes and non-coding RNAs involved in telomere maintenance, immune regulation and tumour progression, providing deeper insight into the pathogenesis of BCC.
Medical subject headings
- Basal Cell Carcinoma
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Skin Neoplasms