| Literature DB >> 18398432 |
Femke A de Snoo1, Jouke-Jan Hottenga, Elizabeth M Gillanders, Loudewijk A Sandkuijl, Mary Pat Jones, Wilma Bergman, Clasine van der Drift, Inge van Leeuwen, Lenny van Mourik, Jeanet A C Ter Huurne, Rune R Frants, Rein Willemze, Martijn H Breuning, Jeffrey M Trent, Nelleke A Gruis.
Abstract
In most Dutch melanoma families, a founder deletion in the melanoma susceptibility gene CDKN2A (which encodes p16) is present. This founder deletion (p16-Leiden) accounts for a significant proportion of the increased melanoma risk. However, it does not account for the Atypical Nevus (AN) phenotype that segregates in both p16-Leiden carriers and non-carriers. The AN-affected p16-Leiden family members are therefore a unique valuable resource for unraveling the genetic etiology of the AN phenotype, which is considered both a risk factor and a precursor lesion for melanoma. In this study, we performed a genome-wide scan for linkage in four p16-Leiden melanoma pedigrees, classifying family members with five or more AN as affected. The strongest evidence for an atypical nevus susceptibility gene was mapped to chromosome band 7q21.3 (two-point LOD score=2.751), a region containing candidate gene CDK6.Entities:
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Year: 2008 PMID： 18398432 DOI： 10.1038/ejhg.2008.72
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246