Oncology Central

Role of rare germline copy number variation in melanoma-prone patients

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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).

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