Genetics of melanoma predisposition

Hayward, Nicholas K. (2003) Genetics of melanoma predisposition. Oncogene, 22 20: 3053-3062. doi:10.1038/sj.onc.1206445

Author Hayward, Nicholas K.
Title Genetics of melanoma predisposition
Journal name Oncogene   Check publisher's open access policy
ISSN 0950-9232
Publication date 2003-05-20
Sub-type Article (original research)
DOI 10.1038/sj.onc.1206445
Volume 22
Issue 20
Start page 3053
End page 3062
Total pages 10
Editor J. Jenkins
E. P. Reddy
Place of publication London, England
Publisher Nature Publishing Group
Collection year 2003
Language eng
Subject C1
321011 Medical Genetics
730107 Inherited diseases (incl. gene therapy)
Abstract Predisposition to melanoma is genetically heterogeneous. Two high penetrance susceptibility genes, CDKN2A and CDK4, have so far been identified and mapping is ongoing to localize and identify others. With the advent of a catalogue of millions of potential DNA polymorphisms, attention is now also being focused on identification of genes that confer a more modest contribution to melanoma risk, such as those encoding proteins involved in pigmentation, DNA repair, cell growth and differentiation or detoxification of metabolites. One such pigmentation gene, MC1R, has not only been found to be a low penetrance melanoma gene but has also been shown to act as a genetic modifier of melanoma risk in individuals carrying CDKN2A mutations. Most recently, an environmental agent, ultraviolet radiation, has also been established as a modifier of melanoma risk in CDKN2A mutation carriers. Hence, melanoma is turning out to be an excellent paradigm for studying gene-gene and gene-environment interactions.
Keyword Biochemistry & Molecular Biology
Cell Biology
Genetics & Heredity
Cdkn2a Germline Mutations
Cutaneous Malignant-melanoma
Melanocortin-1 Receptor Mc1r
Multiple Primary Melanomas
S-transferase M1
Prone Families
Human Pigmentation
Hair Color
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2004 Higher Education Research Data Collection
School of Biomedical Sciences Publications
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Citation counts: TR Web of Science Citation Count  Cited 186 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 214 times in Scopus Article | Citations
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Created: Tue, 14 Aug 2007, 19:31:55 EST