AI Article Synopsis
- * Researchers analyzed 41 melanoma-prone patients and identified ten rare CNVs linked to cancer-related genes, specifically highlighting five genes that are associated with melanoma.
- * The presence of these rare CNVs was associated with an earlier onset of melanoma and a higher overall risk of skin cancer, suggesting they are important factors in understanding melanoma susceptibility.
Article Abstract
Aim: This work evaluates a possible causative role for germline copy number variants (CNVs) in melanoma predisposition.
Patients & Methods: A total of 41 melanoma-prone Brazilian patients were investigated for CNVs using 850K single nucleotide polymorphism arrays.
Results: Ten rare CNVs were identified in nine patients, comprising 54 known genes, mostly related to cancer. In silico analyses revealed gene enrichment for cellular development and growth, and proliferation, highlighting five genes directly associated with the melanoma phenotype (ANGPT1, IDH1, PDE5A, HIST1H1B and GCNT2).
Conclusion: Patients harboring rare CNVs exhibited a decreased age of disease onset, in addition to an overall higher skin cancer predisposition. Our findings suggest that rare CNVs contribute to melanoma susceptibility, and should be taken into account when investigating cancer risk factors.
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| http://dx.doi.org/10.2217/fon.16.22 | DOI Listing |
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