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This summary reviews the association between MAGEC2 (HGNC:13574) and melanoma (MONDO_0005105). Multiple independent studies, including case‐based reports and multi‑patient mutational analyses, support a strong relationship between alterations in MAGEC2 and melanoma pathogenesis (PMID:20862285).
Genetic evidence derives from a multi‑patient study that analyzed melanoma cell lines from 27 patients (PMID:20862285) and fresh tumor samples from an additional cohort, where mutation frequencies in MAGEC2 reached up to 14.8%. Although a specific coding variant meeting the pre‑specified HGVS criteria was not reported, the recurrent observation of MAGEC2 mutations underscores its contributory role in melanoma.
Functional studies further bolster this association. In a CRISPR/Cas9‑mediated investigation using A375 melanoma cells, knockout of MAGEC2 led to widespread proteomic alterations, including upregulation of apoptosis signaling and downregulation of actin‐based motility pathways, thus aligning with the aggressive behavior of melanoma (PMID:27636589).
The convergence of genetic and functional data provides strong evidence supporting the clinical relevance of MAGEC2 in melanoma. Even though segregation analysis in familial settings was not performed (affected relatives: 0), the robust mutation frequency and experimental validation from independent studies clearly indicate a pathogenic role.
Additional lines of evidence, particularly the multi‑patient analyses and functional assays, not only validate the association but also suggest that alterations in MAGEC2 may serve as important diagnostic markers and potential therapeutic targets in melanoma.
Key take‑home: The integration of mutational data and mechanistic studies substantiates a strong association between MAGEC2 and melanoma, reinforcing its clinical utility in diagnostic decision‑making and therapeutic innovation.
Gene–Disease AssociationStrongMulti‑patient mutational analysis in melanoma (27 patients in cell line studies [PMID:20862285]) together with supportive functional knockout studies ([PMID:27636589]) justify a strong association. Genetic EvidenceStrongFrequent mutations in MAGEC2 observed in melanoma samples, with mutation frequencies up to 14.8% in analyzed cohorts ([PMID:20862285]). Functional EvidenceStrongCRISPR/Cas9 knockout of MAGEC2 in A375 melanoma cells produced significant changes in apoptosis and cell motility pathways ([PMID:27636589]). |