Melanoma susceptibility: an update on genetic and epigenetic findings

xlomafota13 shared this article with you from Inoreader Melanoma susceptibility: an update on genetic and epigenetic findings Via International Journal of Molecular Epidemiology and Genetics Int J Mol Epidemiol Genet. 2021 Oct 15;12(5):71-89. eCollection 2021. ABSTRACT Malignant melanoma is one of the most highly ranked cancers in terms of years of life lost. Hereditary melanoma with its increased familial susceptibility is thought to affect up to 12% of all melanoma patients. In the past, only a few high-penetrance genes associated with familial melanoma, such as CDKN2A and CDK4, have been clinically tested. However, findings now indicate that melanoma is a cancer most likely to develop not only due to high-penetrance variants but also due to polygenic inheritance patterns, leaving no clear division between the hereditary and sporadic development of malignant melanoma. Various pathogenic low-penetrance variants were recently discovered through genome-wide association studies, and are now translated into polygenic risk scores. These can show superior sensitivity rates for the prediction of melanoma susceptibi lity and related mixed cancer syndromes than risk scores based on phenotypic traits of the patients, with odds ratios of up to 5.7 for patients in risk groups. In addition to describing genetic findings, we also review the first results of epigenetic research showing constitutional methylation changes that alter the susceptibility to cutaneous melanoma and its risk factors. PMID:34853632 | PMC:PMC8611230 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.