Abstract
Abstract Background: Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) (collectively referred to as keratinocytic skin cancers (KC)) are the most common forms of cancer in fair-skinned people. KCs account for the highest expenditure of any cancer type in the Australian healthcare system. Knowledge about the genetic architecture of skin cancer may help elucidate the biology of the disease. Methods: We conducted a genome-wide meta-analysis of KC, including 28248 cases and 353855 controls from United Kingdom, United States and Australian populations. We performed LD score regression to determine the genetic correlation between KC, BCC, SCC, and melanoma. Results: We identified 41 independent genome-wide significant SNPs associated with KC risk, 16 of which have not been reported previously. A further 10 loci were implicated using gene-based tests. New loci included common variants in BRCA2 (rare variants increase risk of various cancers) and CTLA4 (immune response; antibodies targeting CTLA-4 are used to treat melanoma). We found a strong genetic correlation between BCC and SCC, 0.93 (95% confidence interval [CI] 0.71 - 1.16). The genetic correlation between melanoma and BCC was 0.66 (95% CI: 0.41 - 0.91). Comparatively lower genetic correlations were identified between melanoma and SCC 0.43 (95% CI: 0.12 - 0.74), and melanoma and KC 0.52 (95% CI: 0.27 - 0.76). Conclusions: We have identified novel genetic loci associated with KC risk which will lead to a greater understanding of the biology of KC. Future work will leverage the genetic correlations between BCC, SCC and melanoma to further advance our understanding of these cancers. Citation Format: Upekha E. Liyanage, Matthew H. Law, Xikun Han, Jiyuan An, Jue-Sheng Ong, Puya Gharahkhani, Mark M. Iles, Rachel E. Neale, Catherine Olsen, Stuart Macgregor, David C. Whiteman. Genome-wide meta-analysis of keratinocytic cancers identifies 26 novel risk loci [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 1592.
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