Article
CDKN2A novel mutation in a patient from a melanoma-prone family.
Melanoma research - 1 Oct 2001
Grammatico P, Binni F, Eibenschutz L, De Bernardo C, Grammatico B, Rinaldi R, De Simone P, Catricalà C
Abstract excerpt
CDKN2A is thought to be the main candidate gene for melanoma susceptibility. Deletion or mutations in the CDKN2A gene may produce an imbalance between functional p16 and cyclin D, causing abnormal cell growth. We here describe a novel mutation consisting of a 1 bp deletion at nucleotide position 201 (codon 67) (CACGGcGCG) resulting in a truncated protein (stop codon 145). The patient, a female subject from a...
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