Article
A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.
Oncogene - 6 Sept 2001
Rizos H, Puig S, Badenas C, Malvehy J, Darmanian A P, Jiménez L, Milà M, Kefford R F
Abstract excerpt
The INK4a/ARF locus encodes the cyclin dependent kinase inhibitor, p16(INK4a) and the p53 activator, p14ARF. These two proteins have an independent first exon (exon 1alpha and exon 1beta, respectively) but share exons 2 and 3 and are translated in different reading frames. Germline mutations in this locus are associated with melanoma susceptibility in 20-40% of multiple case melanoma families. Although most of...
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