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

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; Philippa H Youl; J J Zone; M H Skolnick; L A Cannon-Albright

doi:10.1038/ng0994-22

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

Journal article

Peer reviewed

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

A Kamb, D Shattuck-Eidens, R Eeles, Q Liu, N A Gruis, W Ding, C Hussey, T Tran, Y Miki, J Weaver-Feldhaus, …

Nature Genetics, Vol.8(1), pp.22-26

1994

DOI: https://doi.org/10.1038/ng0994-22

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Abstract

melanoma

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. © 1994 Nature Publishing Group.

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Title: Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus
Authors: A Kamb (Author) - Myriad Genetics, United States
D Shattuck-Eidens (Author) - Myriad Genetics, United States
R Eeles (Author) - University of Utah Medical Center, United States
Q Liu (Author) - Myriad Genetics, United States
N A Gruis (Author) - Myriad Genetics, United States
W Ding (Author) - Myriad Genetics, United States
C Hussey (Author) - Myriad Genetics, United States
T Tran (Author) - Myriad Genetics, United States
Y Miki (Author) - University of Utah Medical Center, United States
J Weaver-Feldhaus (Author) - Myriad Genetics, United States
M McClure (Author) - Myriad Genetics, United States
J F Aitken (Author) - Queensland Institute of Medical Research
D E Anderson (Author) - University of Texas MD Anderson Cancer Center, United States
W Bergman (Author) - Leiden University, Netherlands
R Frants (Author) - Leiden University, Netherlands
D E Goldgar (Author) - University of Utah Medical Center, United States
A Green (Author) - Queensland Institute of Medical Research
R Maclennan (Author) - Queensland Institute of Medical Research
N G Martin (Author) - Queensland Institute of Medical Research
L J Meyer (Author) - University of Utah Medical Center, United States
Philippa H Youl (Author) - Queensland Institute of Medical Research
J J Zone (Author) - University of Utah Medical Center, United States
M H Skolnick (Author) - Myriad Genetics, United States
L A Cannon-Albright (Author) - University of Utah Medical Center, United States
Publication details: Nature Genetics, Vol.8(1), pp.22-26
Publisher: Nature Publishing Group
Date published: 1994
DOI: 10.1038/ng0994-22
ISSN: 1061-4036
Organisation Unit: University of the Sunshine Coast, Queensland; School of Health and Sport Sciences - Legacy
Language: English
Record Identifier: 99450806002621
Output Type: Journal article

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