Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families : evidence for common founders and independent mutations

Pollock, Pamela M., Spurr, Nigel, Bishop, Tim, Newton-Bishop, Julia, Gruis, Nelleke, van der Velden, Pieter A., Goldstein, Alisa M., Tucker, Margaret A., Foulkes, William D., Barnhill, Ray, Haber, Daniel, Fountain, Jane W., & Hayward, Nicholas K. (1998) Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families : evidence for common founders and independent mutations. Human Mutation, 11(6), pp. 424-431.

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Germ-line mutations in CDKN2A have been shown to predispose to cutaneous malignant melanoma. We have identified 2 new melanoma kindreds which carry a duplication of a 24bp repeat present in the 5' region of CDKN2A previously identified in melanoma families from Australia and the United States. This mutation has now been reported in 5 melanoma families from 3 continents: Europe, North America, and Australasia. The M53I mutation in exon 2 of CDKN2A has also been documented in 5 melanoma families from Australia and North America. The aim of this study was to determine whether the occurrence of the mutations in these families from geographically diverse populations represented mutation hotspots within CDKN2A or were due to common ancestors. Haplotypes of 11 microsatellite markers flanking CDKN2A were constructed in 5 families carrying the M53I mutation and 5 families carrying the 24bp duplication. There were some differences in the segregating haplotypes due primarily to recombinations and mutations within the short tandem-repeat markers; however, the data provide evidence to indicate that there were at least 3 independent 24bp duplication events and possibly only 1 original M53I mutation. This is the first study to date which indicates common founders in melanoma families from different continents.

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53 citations in Scopus
50 citations in Web of Science®
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ID Code: 45813
Item Type: Journal Article
Refereed: Yes
Keywords: Cyclin-Dependent Kinase Inhibitor p16/ genetics, Founder Effect, Genetic Markers, Genotype, Germ-Line Mutation, Germany, Great Britain, Haplotypes, Melanoma/epidemiology/ethnology/ genetics, Multigene Family, Skin Neoplasms/epidemiology/ethnology/ genetics
DOI: 10.1002/(SICI)1098-1004(1998)11:6<424::AID-HUMU2>3.0.CO;2-2
ISSN: 1059-7794
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > ONCOLOGY AND CARCINOGENESIS (111200) > Cancer Cell Biology (111201)
Divisions: Past > Schools > Cell & Molecular Biosciences
Past > QUT Faculties & Divisions > Faculty of Science and Technology
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 1998 John Wiley & Sons
Deposited On: 09 Sep 2011 01:19
Last Modified: 09 Sep 2011 01:19

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