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CDKN2A as a uveal and cutaneous melanoma susceptibility gene

✍ Scribed by Caroline Kannengiesser; Marie-Françoise Avril; Alain Spatz; Karine Laud; Gilbert M. Lenoir; Brigitte Bressac-de-Paillerets

Book ID
102219168
Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
405 KB
Volume
38
Category
Article
ISSN
1045-2257

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✦ Synopsis

Abstract

A few families have been described whose members are affected by either cutaneous melanoma (CM) or uveal melanoma (UM), suggesting that a common susceptibility could exist. Although CDKN2A is the main CM predisposing gene, thus far no germline CDKN2A mutations have been described in families with both CM and UM. We report a Gly67Ser missense CDKN2A germline mutation in a melanoma‐prone family, where one carrier was affected by UM and the other by a CM. Immunohistochemistry performed on the UM tissue block revealed loss of CDKN2A protein staining in tumor cells. These observations demonstrate that CDKN2A is also a UM susceptibility gene. © 2003 Wiley‐Liss, Inc.

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## Abstract __CDKN2A__ is a major susceptibility gene for cutaneous malignant melanoma (CMM), but the variable penetrance and clinical manifestations among mutation carriers suggest the existence of modifier factors. The goal of this study was to identify modifier genes for CMM in CMM‐prone familie