Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-09

AUTHORS

A. Kamb, D. Shattuck-Eidens, R. Eeles, Q. Liu, N. A. Gruis, W. Ding, C. Hussey, T. Tran, Y. Miki, J. Weaver-Feldhaus, M. McClure, J. F. Aitken, D. E. Anderson, W. Bergman, R. Frants, D. E. Goldgar, A. Green, R. MacLennan, N. G. Martin, L. J. Meyer, P. Youl, J. J. Zone, M. H. Skolnick, L. A. Cannon-Albright

ABSTRACT

A locus for familial melanoma, MLM, has been mapped within the same interval on chromosome 9p21 as the gene for a putative cell cycle regulator, p16INK4 (CDKN2) MTS1. This gene is homozygously deleted from many tumour cell lines including melanomas, suggesting that CDKN2 is a good candidate for MLM. We have analysed CDKN2 coding sequences in pedigrees segregating 9p melanoma susceptibility and 38 other melanoma-prone families. In only two families were potential predisposing mutations identified. No evidence was found for heterozygous deletions of CDKN2 in the germline of melanoma-prone individuals. The low frequency of potential predisposing mutations detected suggests that either the majority of mutations fall outside the CDKN2 coding sequence or that CDKN2 is not MLM. More... »

PAGES

22-26

Journal

TITLE

Nature Genetics

ISSUE

1

VOLUME

8

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng0994-22

    DOI

    http://dx.doi.org/10.1038/ng0994-22

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1042277853

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/7987388


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