Novel MC1R variants in ligurian melanoma patients and controls

Pastorino, Lorenza, Cusano, Roberto, Bruno, William, Lantieri, Francesca, Origone, Paola, Barile, Monica, Gliora, Sara, Shepherd, Graeme A., Sturm, Richard A. and Bianchi-Scarra, Giovanna (2004) Novel MC1R variants in ligurian melanoma patients and controls. Human Mutation, 24 1: 103-1-103-8. doi:10.1002/humu.9253

Author Pastorino, Lorenza
Cusano, Roberto
Bruno, William
Lantieri, Francesca
Origone, Paola
Barile, Monica
Gliora, Sara
Shepherd, Graeme A.
Sturm, Richard A.
Bianchi-Scarra, Giovanna
Title Novel MC1R variants in ligurian melanoma patients and controls
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
Publication date 2004-07
Sub-type Article (original research)
DOI 10.1002/humu.9253
Volume 24
Issue 1
Start page 103-1
End page 103-8
Total pages 8
Place of publication New York, USA
Publisher John Wiley & Sons
Collection year 2004
Language eng
Subject C1
270203 Population and Ecological Genetics
730108 Cancer and related disorders
1103 Clinical Sciences
Formatted abstract
 Several variant forms of the melanocortin-1 receptor gene (MC1R) have been associated with red hair, fair skin and an increased risk for melanoma. Their involvement in melanoma susceptibility is apparently linked both to skin sensitivity and to non-pigmentary pathways. We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occurrence and penetrance of melanoma are low and primary susceptibility is characterized by prevalence of the CDKN2A c.301G>T [p.G101W] founder mutation. Additionally, we attempted to establish the frequency of the red hair/fair skin phenotype in our region. As predicted by anecdotal evidence, the frequency of red hair/phototype I was very low (0.7%). Screening of 17 red-haired individuals and their red-haired relatives, 207 controls and 214 melanoma patients unselected for hair color but all of Ligurian descent, led to the detection of 8 novel substitutions (c.133T>C [p.F45L], c.248C>T [p.S83L], c.332C>T [p. A111V], c.479G>A [p.R160Q], c.637C>T [p.R213W], c.793G>A [p. V265I], c.923C>T [p. T308M], c.943T>C [p.C315R]), 1 novel deletion (c.520_523delGTC [p.V174del]) and 3 novel synonymous variants (c.366G>C [p. V122V], c.684G>A [p. Q228Q], c.726C>T [p.T241T]). Preliminary genotype/phenotype correlation seems to indicate that other genes involved in the regulation of human pigmentation may mask the recessive action of high-penetrance MC1R alleles, thus determining the low frequency of at-risk phototypes and of incidence and/or penetrance of melanoma in Liguria. © 2004 Wiley-Liss, Inc.
Keyword Melanocortin 1 receptor
Red hair
Q-Index Code C1

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Created: Wed, 15 Aug 2007, 04:43:42 EST