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Mutation testing in melanoma families: INK4A, CDK4 and INK4D.

Newton Bishop, JA; Harland, M; Bennett, DC; Bataille, V; Goldstein, AM; Tucker, MA; Ponder, BA; Cuzick, J; Selby, P; Bishop, DT (1999) Mutation testing in melanoma families: INK4A, CDK4 and INK4D. Br J Cancer, 80 (1-2). pp. 295-300. ISSN 0007-0920 https://doi.org/10.1038/sj.bjc.6690354
SGUL Authors: Bennett, Dorothy Catherine

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Abstract

The INK4A gene which codes for the cyclin-dependent kinase (CDK) inhibitor INK4A or p16 underlies susceptibility to melanoma in some families. Germline mutations in the gene that codes for the target protein of p16, CDK4, underlie susceptibility in very rare families. We report mutation screening of the INK4A and CDK4 genes in 42 UK families. A total of nine families were identified with INK4A mutations and none with CDK4 exon 2 mutations. These mutations were in 8/22 (35%) families with three or more cases of melanoma and 1/20 (5%) families with only two cases. In one of these nine families a novel single base pair substitution was identified, Gly67Arg. In an attempt to identify another melanoma susceptibility gene, a member of the INK4 family, the p19 INK4D gene has been studied. The p19 gene was sequenced in DNA from the 42 UK families and six additional US families. No mutations were identified.

Item Type: Article
Additional Information: © Cancer Research Campaign 1999 From twelve months after its original publication, this work is licensed under the Creative Commons Attribution-NonCommercial-Share Alike 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
Keywords: Carrier Proteins, Cell Cycle Proteins, Cyclin-Dependent Kinase 4, Cyclin-Dependent Kinase Inhibitor p16, Cyclin-Dependent Kinase Inhibitor p19, Cyclin-Dependent Kinases, Humans, Melanoma, Mutation, Pedigree, Proto-Oncogene Proteins, Humans, Melanoma, Cyclin-Dependent Kinases, Carrier Proteins, Cell Cycle Proteins, Proto-Oncogene Proteins, Pedigree, Mutation, Cyclin-Dependent Kinase Inhibitor p16, Cyclin-Dependent Kinase Inhibitor p19, Cyclin-Dependent Kinase 4, INK4A, INK4D, familial melanoma, Science & Technology, Life Sciences & Biomedicine, Oncology, ONCOLOGY, INK4A, INK4D, familial melanoma, MALIGNANT-MELANOMA, GENETIC-HETEROGENEITY, GERMLINE MUTATIONS, DYSPLASTIC NEVUS, FAMMM SYNDROME, CHROMOSOME 9P, CANCER, LOCUS, LINKAGE, P16, Oncology & Carcinogenesis, 1112 Oncology and Carcinogenesis
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Br J Cancer
ISSN: 0007-0920
Language: eng
Dates:
DateEvent
April 1999Published
26 March 1999Published Online
4 November 1998Accepted
Publisher License: Creative Commons: Attribution-Noncommercial-Share Alike 3.0
Projects:
Project IDFunderFunder ID
UNSPECIFIEDImperial Cancer Research FundUNSPECIFIED
PubMed ID: 10390011
Web of Science ID: WOS:000080028700043
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/111811
Publisher's version: https://doi.org/10.1038/sj.bjc.6690354

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