Germline MC1R variants and frequency of somatic BRAF, NRAS , and TERT mutations in melanoma: Literature review and meta‐analysis
Autor: | Calogero Saieva, Ines Zanna, Sara Raimondi, Saverio Caini, Emilia Cocorocchio, Giovanna Masala, Ignazio Stanganelli, Paola Queirolo, Sara Gandini, Daniela Massi |
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Rok vydání: | 2021 |
Předmět: |
Proto-Oncogene Proteins B-raf
0301 basic medicine Neuroblastoma RAS viral oncogene homolog Cancer Research Skin Neoplasms Somatic cell Biology Germline GTP Phosphohydrolases 03 medical and health sciences 0302 clinical medicine medicine Humans Melanoma Telomerase Molecular Biology Gene Germ-Line Mutation Genetics Genetic Variation Membrane Proteins Odds ratio medicine.disease 030104 developmental biology 030220 oncology & carcinogenesis Meta-analysis Mutation Cutaneous melanoma Receptor Melanocortin Type 1 |
Zdroj: | Molecular Carcinogenesis. 60:167-171 |
ISSN: | 1098-2744 0899-1987 |
Popis: | Germline variants of the melanocortin-1-receptor (MC1R) gene are the most common genetic trait predisposing to cutaneous melanoma (CM). Here, we performed a literature review and meta-analysis of the association between MC1R gene variants and the frequency of somatic mutations of the BRAF, NRAS, and TERT genes in CM patients. We included studies published until January 2020 in MEDLINE, EMBASE, Ovid Medline, and two grey literature databases. Random effect models were used to pool study-specific estimates into summary odds ratio (SOR) and 95% confidence intervals (CIs). Subgroup and sensitivity analyses were conducted to identify potential sources of heterogeneity and assess the robustness of pooled estimates. Twelve studies published between 2006 and 2018 (encompassing 3566 CM, mostly on nonacral sites) were included. MC1R gene variants were not significantly associated with the frequency of somatic mutations of the BRAF and NRAS genes. Only three studies focused on somatic mutations of the TERT gene promoter, all of which reported moderate-to-strong positive associations with MC1R germline variants. MC1R gene variants appear to make only moderate changes, if any, to the risk of BRAF- or NRAS-mutant CM. The association with TERT promoter mutations is suggestive, yet it warrants confirmation as it is based on a still limited number of studies. |
Databáze: | OpenAIRE |
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