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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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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]
Total Authors: 10
[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
Total Affiliations: 4
Document type: Journal article
Source: FUTURE ONCOLOGY; v. 12, n. 11, p. 1345-1357, JUN 2016.
Web of Science Citations: 1

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