Article
A mutation hotspot at the p14ARF splice site.
Oncogene - 30 Jun 2005
Harland Mark, Taylor Claire F, Chambers Philip A, Kukalizch Kairen, Randerson-Moor Juliette A, Gruis Nelleke A, de Snoo Femke A, ter Huurne Jeanet A C, Goldstein Alisa M, Tucker Margaret A, Bishop D Timothy, Bishop Julia A Newton
Abstract excerpt
Germline mutations of CDKN2A that affect the p16INK4a transcript have been identified in numerous melanoma pedigrees worldwide. In the UK, over 50% of pedigrees with three or more cases of melanoma have been found to carry mutations of CDKN2A. Mutations that affect p14ARF exon 1beta exclusively are very rare. This has led to the suggestion that it is p16INK4a and not p14ARF that plays the critical role in...
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