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

Author(s)

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]

Affiliation

^[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

• Document type: Journal article
• Source: FUTURE ONCOLOGY; v. 12, n. 11, p. 1345-1357, JUN 2016.
• Web of Science Citations: 1

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. (AU)

• FAPESP's process: 12/21932-6 - Investigation of genetic factors on etiology of familial melanoma syndrome: evaluation of copy number variation (CNV) and exome sequencing
• Grantee: Felipe Fidalgo de Carvalho
• Support type: Scholarships in Brazil - Doctorate
• FAPESP's process: 08/57887-9 - National Institute of Oncogenomics
• Grantee: Luiz Paulo Kowalski
• Support type: Research Projects - Thematic Grants