Year: 2012
Type: article
Study design: Observational Study
Abstract: Copy number variations (CNVs) have been shown to contribute substantially to disease susceptibility in several inherited diseases including cancer. We conducted a genome-wide search for CNVs in blood-derived DNA from 79 individuals (62 melanoma patients and 17 spouse controls) of 30 high-risk melanoma-prone families without known segregating mutations using genome-wide comparative genomic hybridization (CGH) tiling arrays. We identified a duplicated region on chromosome 4q13 in germline DNA of all melanoma patients in a melanoma-prone family with three affected siblings. We confirmed the duplication using quantitative PCR and a custom-made CGH array design spanning the 4q13 region. The duplicated region contains 10 genes, most of which encode CXC chemokines. Among them, CXCL1 (melanoma growth-stimulating activity α) and IL8 (interleukin 8) have been shown to stimulate melanoma growth in vitro and in vivo. Our data suggest that the alteration of CXC chemokine genes may confer susceptibility to melanoma.
Source: Pigment Cell & Melanoma Research
Institutions: United States Department of Health and Human Services, National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics, University of Genoa, Hospital Clínic de Barcelona, Consorci Institut D'Investigacions Biomediques August Pi I Sunyer, QIMR Berghofer Medical Research Institute, Ospedale “M. Bufalini” di Cesena, Ospedale Policlinico San Martino, Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $5,000
Funders: European Commission, Ministero della Salute, Fondazione Cassa di Risparmio di Genova e Imperia, National Institutes of Health, Medical Research Council, National Health and Medical Research Council, Agència de Gestió d'Ajuts Universitaris i de Recerca, Instituto de Salud Carlos III, National Cancer Institute, Division of Cancer Epidemiology and Genetics, National Cancer Institute
OpenAlex ID: W1513040434