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.
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Acknowledgements
We are indebted to the family members for their past and recent participation in our research. FAS is supported by the Dutch Cancer Society (RUL 99-1932); NAG is a recipient of an Aspasia fellowship of the Netherlands organization for Scientific Research.
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de Snoo, F., Hottenga, JJ., Gillanders, E. et al. Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families. Eur J Hum Genet 16, 1135–1141 (2008). https://doi.org/10.1038/ejhg.2008.72
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DOI: https://doi.org/10.1038/ejhg.2008.72
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