Exploring germline genetics of invasive and in situ cutaneous melanoma

Understanding whether germline genetic factors play a role in cutaneous melanoma (CM) invasion may inform future efforts towards tailored screening and management. While many single nucleotide polymorphisms (SNPs) that play a role in CM risk have been identified by genome-wide association studies (GWAS) (Landi et al. 2020), none have been identified that are specific to invasiveness of CM. Using data from the UK Biobank (UKBB) (Bycroft et al. 2018), the FinnGen cohort (Kurki et al. 2022), the QSkin Sun and Health Study (QSkin) (Olsen et al. 2012), and the Queensland Study of Melanoma: environmental and genetic associations (Q-MEGA) (Baxter et al. 2008) we explored if (a) propensity to develop invasive vs in situ CM is heritable (b) if there are specific genetic loci that associate with diagnosis of an invasive or in situ CM, (c) we can construct a polygenic risk score (PRS) that is associated with being diagnosed with an invasive vs an in situ CM.