Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds

Human Molecular Genetics
G J WalkerJ W Fountain

Abstract

The cyclin dependent kinase inhibitor 2 (CDKN2) gene on chromosome 9p21 is potentially involved in the genesis of many cancers and is currently under intense investigation as a possible melanoma susceptibility locus. We have analyzed 18 Australian melanoma kindreds for mutations within the coding and neighboring splice junction portions of the CDKN2 gene. In seven kindreds (including our six largest), CDKN2 mutations were found to segregate with the putative melanoma chromosome previously assigned by 9p haplotype analysis. These changes included the duplication of a 24 bp repeat, a deleted C residue resulting in the introduction of a premature stop codon, and four single basepair changes causing amino acid substitutions. Mutations segregated to 46 of 51 affected individuals in these seven kindreds, with three apparent sporadic cases in one family and one in each of another two families. Penetrance was variable (55-100%) among the different mutations. These data provide additional strong support that the CDKN2 gene is the chromosome 9p21 familial melanoma locus.

Citations

Jul 31, 2001·Genes, Chromosomes & Cancer·P M PollockN K Hayward
Apr 12, 2002·International Journal of Cancer. Journal International Du Cancer·David C WhitemanCharis Eng
May 26, 2005·Biochemical and Biophysical Research Communications·T M BeckerG J Mann
Aug 1, 1998·Mutation Research·S Venkatachalam, L A Donehower
Nov 21, 1998·Biochimica Et Biophysica Acta·M Ruas, G Peters
May 1, 1997·Seminars in Oncology Nursing·M C FraserM A Tucker
Nov 9, 2002·The Lancet Oncology·Richard KeffordUNKNOWN Melanoma Genetics Consortium
Mar 27, 1998·The New England Journal of Medicine·J MonzonN J Lassam
Aug 6, 1996·Proceedings of the National Academy of Sciences of the United States of America·M G FitzGeraldD A Haber
Jan 21, 1997·Proceedings of the National Academy of Sciences of the United States of America·D E QuelleC J Sherr
Nov 5, 1997·Human Molecular Genetics·M HarlandJ N Bishop
May 21, 1997·Journal of the National Cancer Institute·A M Goldstein, M A Tucker
Nov 5, 1997·Journal of the National Cancer Institute·D C WhitemanN K Hayward
Mar 10, 1999·Journal of the National Cancer Institute·J AitkenN Hayward
Mar 16, 2000·Journal of the National Cancer Institute·V BatailleT D Spector
Mar 3, 2011·Plastic and Reconstructive Surgery·David T NetscherBhuvaneswari Krishnan
Feb 12, 2004·Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [et Al.]·Rafał CzajkowskiGrazyna Uchańska
Aug 15, 2006·Journal of Medical Genetics·Alisa M GoldsteinUNKNOWN Melanoma Genetics Consortium (GenoMEL)
Nov 7, 1998·Clinical Chemistry and Laboratory Medicine : CCLM·E A YakobsonH Peretz
Oct 28, 1998·Proceedings of the National Academy of Sciences of the United States of America·A RadfarN Rosenberg
Jun 1, 1996·Current Opinion in Genetics & Development·E H Epstein
Mar 11, 1999·Current Opinion in Genetics & Development·N E Sharpless, R A DePinho
Mar 7, 2007·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Markus Fischer
May 10, 2005·Mutation Research·Norman E Sharpless
Jan 16, 2007·The Journal of Investigative Dermatology·Irene OrlowUNKNOWN GEM Study Group
Nov 30, 2012·The Journal of Investigative Dermatology·Noah C JenkinsDouglas Grossman
Aug 8, 2015·Familial Cancer·Lauren G AoudeNicholas K Hayward
Mar 20, 2015·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Lauren G AoudeNicholas K Hayward
Jun 20, 1998·Molecular and Cellular Probes·C WangA K Lalwani
Feb 13, 2001·Annual Review of Medicine·C EngA de la Chapelle
Apr 30, 2005·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Susana PuigMontserrat Milà
Jan 26, 1999·Journal of Molecular Biology·K S TangL S Itzhaki
Apr 13, 2006·Acta Oto-laryngologica·G Lehnerdt, M Fischer
Oct 3, 1999·International Journal of Cancer. Journal International Du Cancer·P GhiorzoG Bianchi-Scarrà
Dec 6, 1997·International Journal of Cancer. Journal International Du Cancer·S SunW D Foulkes

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