Genomic and physiological characteristics for survival in melanoma: a genetic epidemiology study

Melanoma is the most fatal type of skin cancer that originates from the malignant transformation of melanocytes. Melanoma genomes are some of the most highly mutated genomes of all cancers. Melanoma often involves disrupted cell signaling, cell cycle regulation, and transcriptional regulation arising from various genetic mutations. We explored mutation patterns for People experiencing Melanoma (PeM) in the National Cancer Institute (NCI) Genomic Data Commons (GDC) release 37.0, which contained detailed, deidentified genomic data on 86,962 people who have/had cancer with 2,885,293 mutations in 22,501 genes. The database included genetic data on 913 people with primary cutaneous melanomas, with a cohort of 296 which had complete mutational genomic data. Mutational genomic data of the 10 most mutated genes in PeM was collected from a random subsample of n = 105. Statistical analysis (SPSS version 27) was performed to assess the impact of each mutation, assess for prognostic value of each mutation, and compare mutations between patients with cutaneous melanoma. Logistic regression analyses showed nonsignificant positive associations between titin (TTN) and the histone deacetylase LRP1B and survival, whereas mucin 16 (MUC16), the serine/threonine protein kinase B-raf (BRAF), and the cub and sushi domain protein (CSMD1) were negative. Consistent with previous research, CSMD1 proved to be one of the most damaging mutations with a significant negative association with vital status. Research indicates a need for further analyses to evaluate prognosis and vital status in melanoma cases and to expand personalized genomic profiling for risk genes across the population.