Role of rare germline copy number variation in melanoma-prone patients.
Future Oncol
; 12(11): 1345-57, 2016 Jun.
Article
em En
| MEDLINE
| ID: mdl-27020340
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
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Predisposição Genética para Doença
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Variações do Número de Cópias de DNA
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Melanoma
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article