Compilation of somatic mutations of the CDKN2 gene in human cancers : non-random distribution of base substitutions

Pollock, Pamela M., Pearson, John V., & Hayward, Nicholas K. (1996) Compilation of somatic mutations of the CDKN2 gene in human cancers : non-random distribution of base substitutions. Genes Chromosomes and Cancer, 15(2), pp. 77-88.

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The CDKN2 gene, encoding the cyclin-dependent kinase inhibitor p16, is a tumour suppressor gene that maps to chromosome band 9p21-p22. The most common mechanism of inactivation of this gene in human cancers is through homozygous deletion; however, in a smaller proportion of tumours and tumour cell lines intragenic mutations occur. In this study we have compiled a database of over 120 published point mutations in the CDKN2 gene from a wide variety of tumour types. A further 50 deletions, insertions, and splice mutations in CDKN2 have also been compiled. Furthermore, we have standardised the numbering of all mutations according to the full-length 156 amino acid form of p16. From this study we are able to define several hot spots, some of which occur at conserved residues within the ankyrin domains of p16. While many of the hotspots are shared by a number of cancers, the relative importance of each position varies, possibly reflecting the role of different carcinogens in the development of certain tumours. As reported previously, the mutational spectrum of CDKN2 in melanomas differs from that of internal malignancies and supports the involvement of UV in melanoma tumorigenesis. Notably, 52% of all substitutions in melanoma-derived samples occurred at just six nucleotide positions. Nonsense mutations comprise a comparatively high proportion of mutations present in the CDKN2 gene, and possible explanations for this are discussed.

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ID Code: 45808
Item Type: Journal Article
Refereed: Yes
Keywords: Amino Acid Sequence, Carcinoma, Non-Small-Cell Lung/genetics, Carrier Proteins/chemistry/ genetics, Chromosomes, Human, Pair 9/ genetics, Codon/genetics, Cyclin-Dependent Kinase Inhibitor p16, DNA Mutational Analysis, DNA, Neoplasm/genetics, Databases, Factual, Genes, Tumor Suppressor, Genes, p53, Humans, Lung Neoplasms/genetics, Melanoma/etiology/genetics, Molecular Sequence Data, Mutation, Neoplasm Proteins/chemistry/ genetics, Neoplasms/ genetics, Neoplasms, Radiation-Induced/etiology/genetics, RNA Splicing, Sequence Deletion, Tumor Cells, Cultured
DOI: 10.1002/(SICI)1098-2264(199602)15:2<77::AID-GCC1>3.0.CO;2-0
ISSN: 1045-2257
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 1996 John Wiley & Sons
Deposited On: 09 Sep 2011 00:06
Last Modified: 10 Sep 2011 03:43

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