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Intronic sequence variants of the CDKN2A gene in melanoma pedigrees

✍ Scribed by Mark Harland; Claire F. Taylor; Sylvia Bass; Michael Churchman; Juliette A. Randerson-Moor; Elizabeth A. Holland; Graham J. Mann; D. Timothy Bishop; Julia A. Newton Bishop

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
408 KB
Volume
43
Category
Article
ISSN
1045-2257

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✦ Synopsis

Abstract

Germ‐line mutations of the tumor‐suppressor gene CDKN2A predispose individuals to melanoma in families worldwide. However, coding mutations of CDKN2A have not been detected in a significant proportion of those affected. The identification of a disease‐associated intronic mutation of CDKN2A in UK families, which has proved to be the most common CDKN2A mutation as yet identified in this population, has highlighted the possibility that additional causal mutations may lie within the intronic sequence of the gene. In this article, we describe the comprehensive screening of 109 English and 26 Australian melanoma pedigrees for intronic mutations of CDKN2A. In total, 24 sequence variants were identified across the two introns of the gene. We show evidence that two of the CDKN2A intronic variants (IVS1+1104 C > A and IVS1−1104 C > G) predispose to melanoma. IVS1+1104 was shown to result in the aberrant splicing of both p16^INK4a^ and p14^ARF^ mRNA. Overall, however, the proportion of English melanoma families with these variants is small. © 2005 Wiley‐Liss, Inc.

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