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

Autor(es)

Fidalgo, Felipe ^[1] ; Rodrigues, Tatiane Cristina ^[2] ; Silva, Amanda Goncalves ^[2] ; Facure, Luciana ^[3] ; Soares de Sa, Bianca Costa ^[3] ; Duprat, Joao Pedreira ^[3] ; Achatz, Maria Isabel ^[4] ; Rosenberg, Carla ^[2] ; Carraro, Dirce Maria ^[1] ; Victorino Krepischi, Ana Cristina ^[2]

Afiliação do(s) autor(es)

^[1] AC Camargo Canc Ctr, Int Res Ctr, Sao Paulo - Brazil

^[2] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508 Sao Paulo - Brazil

^[3] AC Camargo Canc Ctr, Dept Skin Canc, Sao Paulo - Brazil

^[4] AC Camargo Canc Ctr, Dept Oncogenet, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: FUTURE ONCOLOGY; v. 12, n. 11, p. 1345-1357, JUN 2016.
• Citações Web of Science: 1

Resumo

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. (AU)

• Processo FAPESP: 12/21932-6 - Investigação de fatores genéticos na etiologia da síndrome do melanoma familial: avaliação de copy number variation (CNV) e sequenciamento de exoma
• Beneficiário: Felipe Fidalgo de Carvalho
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 08/57887-9 - Instituto Nacional de Oncogenômica
• Beneficiário: Luiz Paulo Kowalski
• Modalidade de apoio: Auxílio à Pesquisa - Temático