Clinical and Molecular Characterization of Patients at Risk for Hereditary Melanoma in Southern Brazil View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-02

AUTHORS

Patricia Ashton-Prolla, Lucio Bakos, Gerson Junqueira, Roberto Giugliani, Sergio J Azevedo, David Hogg

ABSTRACT

Melanoma is the most dangerous of all common skin cancers, due to its propensity to metastasize. Therefore, identification of at-risk populations may allow early detection of disease at a curable stage. In Europe and North America, between 8-14% of melanoma patients have a family history of the disease, and a subset of these individuals possess germline mutations in the CDKN2A gene, which encodes the p16(INK4A) and p14(ARF) tumor suppressors. We identified 30 patients (29 families) from Southern Brazil, who had a family history of melanoma and/or pancreatic cancer; or a personal history of multiple primary melanoma. We screened this cohort for mutations in the CDKN2A and CDK4 genes, and detected two functional mutations: a G-34T transversion in 5'untranslated region; and a M53I alteration encoded in exon 2. Both mutants have been previously associated with melanoma and demonstrate founder effects. We conclude that germline mutations of CDKN2A occur in the Brazilian population, and that these mutations likely originated in Europe. More... »

PAGES

421-425

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/sj.jid.5701030

    DOI

    http://dx.doi.org/10.1038/sj.jid.5701030

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1047197000

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/17713569


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