© 2005 BMJ Publishing Group Ltd
ONLINE MUTATION REPORT
Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population
1 Department of Medical Biophysics, University of Toronto, Toronto, Canada
2 Program in Genetic and Genomic Biology, Hospital for Sick Children, Toronto
3 Department of Clinical Sciences, University of Toronto
4 Laboratory of Clinical Biochemistry, Tel Aviv University, Sourasky Medical Centre, Tel Aviv, Israel
5 Molecular Cell Biology Laboratory, Department of Internal Medicine "C", Sheba Medical Centre, Tel-Hashomer, Israel
6 Department of Medicine, University of Toronto
Correspondence to:
Correspondence to:
Dr David Hogg
University of Toronto, Medical Sciences Building, Room 7368, Toronto, Ontario, M5S 1A8 Canada; david.hogg@utoronto.ca
Revised version received 20 December 2004
Accepted 21 December 2004
Abbreviations: CMM, cutaneous malignant melanoma
Keywords: Ashkenazi Jewish population; malignant melanoma; CDKN2A; genotype analysis
| The first 150 words of the full text of this article appear below. |
Cutaneous malignant melanoma (CMM; MIM #155601) comprises about 1% of all cancer cases in European populations, but its mortality is over 2% because of the propensity of this tumour to metastasise. Surveillance of CMM-prone individuals and populations should decrease the morbidity and mortality associated with this disease.
In approximately 5–12% of all melanoma cases, there is a family history of the disease, defined as having one or more affected first degree relatives.1 Germline mutations of CDKN2A, located on chromosome 9p21, cosegregate with affected cases in an estimated 20% of melanoma families worldwide (reviewed by Goldstein2). CDKN2A encodes two different tumour suppressor proteins: the CDK4/6 cell cycle inhibitor p16INK4A from exons 1
, 2, and 3; and the MDM2 inhibitor p14ARF from exons 1ß, 2, and 3. The frequency of discovering a CDKN2A mutation within a family increases with the number of affected relatives, ranging from 
15% in
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