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Grant Details

Grant Number: 5R01CA102422-05 Interpret this number
Primary Investigator: Cannon Albright, Lisa
Organization: University Of Utah
Project Title: Identification of Melanoma Predisposition Loci
Fiscal Year: 2007


DESCRIPTION (provided by applicant): Previous investigation of Utah melanoma pedigrees resulted in the identification of the only major melanoma predisposition gene yet identified, cyclin-dependent kinase inhibitor 2A (CDKN2A or p16) (Cannon Albright et al., 1992; Cannon Albright et al., 1994; Kamb et al. 1994). However, only 20-40% of melanoma high-risk pedigrees have a p16 mutation, suggesting that additional melanoma predisposition genes exist. This is also supported by the existence of studied informative melanoma pedigrees that do not have mutations in the coding region of the p16 gene nor demonstrate linkage to the p16 locus on chromosome 9p21. The goal of this project is to identify additional melanoma predisposition genes through the genotypic characterization of Utah high-risk melanoma pedigrees which do not appear to be due to p16, ARF, or CDK4. This investigation will utilize resources that are unique to the University of Utah to identify non-p16 melanoma predisposition genes. These resources include 1) the Utah Population Database (UPDB), which permits identification and recruitment of numerous, extended high-risk melanoma pedigrees and facilitated investigation of the original Utah high-risk pedigree collection used to identify p16 and 2) a highly focused Familial Melanoma Research Clinic (FMRC) that is devoted to the clinical examination and molecular characterization of at-risk relatives in high-risk melanoma pedigrees. We will identify and sample high-risk melanoma pedigrees, perform a genomic search on the pedigrees with no indication of 9p involvement, and fine map any predisposition regions identified. Identification of melanoma predisposition genes will ultimately increase our ability to appropriately screen high-risk patients, and will suggest additional molecular pathways that may serve as targets for the diagnosis and treatment of melanoma.


A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma.
Authors: Teerlink C.C. , Huff C. , Stevens J. , Yu Y. , Holmen S.L. , Silvis M.R. , Trombetti K. , Zhao H. , Grossman D. , Farnham J.M. , et al. .
Source: Journal of the National Cancer Institute, 2018-12-01; 110(12), p. 1380-1385.
PMID: 29659923
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Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.
Authors: Hawkes J.E. , Cassidy P.B. , Manga P. , Boissy R.E. , Goldgar D. , Cannon-Albright L. , Florell S.R. , Leachman S.A. .
Source: Journal of dermatological science, 2013 Jan; 69(1), p. 30-7.
EPub date: 2012-10-13.
PMID: 23103111
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Linkage analysis of extended high-risk pedigrees replicates a cutaneous malignant melanoma predisposition locus on chromosome 9q21.
Authors: Cannon-Albright L.A. , Teerlink C.C. , Farnham J.M. , Thomas A.W. , Zone J.J. , Leachman S.A. .
Source: The Journal of investigative dermatology, 2013 Jan; 133(1), p. 128-34.
EPub date: 2012-09-06.
PMID: 22951724
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A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.
Authors: Teerlink C. , Farnham J. , Allen-Brady K. , Camp N.J. , Thomas A. , Leachman S. , Cannon-Albright L. .
Source: Human genetics, 2012 Jan; 131(1), p. 77-85.
EPub date: 2011-06-26.
PMID: 21706340
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Genome-wide association study identifies three new melanoma susceptibility loci.
Authors: Barrett J.H. , Iles M.M. , Harland M. , Taylor J.C. , Aitken J.F. , Andresen P.A. , Akslen L.A. , Armstrong B.K. , Avril M.F. , Azizi E. , et al. .
Source: Nature genetics, 2011-10-09; 43(11), p. 1108-13.
EPub date: 2011-10-09.
PMID: 21983787
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Genome-wide association study identifies three loci associated with melanoma risk.
Authors: Bishop D.T. , Demenais F. , Iles M.M. , Harland M. , Taylor J.C. , Corda E. , Randerson-Moor J. , Aitken J.F. , Avril M.F. , Azizi E. , et al. .
Source: Nature genetics, 2009 Aug; 41(8), p. 920-5.
EPub date: 2009-07-05.
PMID: 19578364
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Increased melanocytic nevi and nevus density in a G-34T CDKN2A/p16 melanoma-prone pedigree.
Authors: Florell S.R. , Meyer L.J. , Boucher K.M. , Grossman D. , Cannon-Albright L.A. , Harris R.M. , Samlowski W.E. , Zone J.J. , Leachman S.A. .
Source: The Journal of investigative dermatology, 2008 Aug; 128(8), p. 2122-5.
EPub date: 2008-03-13.
PMID: 18337833
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Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays.
Authors: Thomas A. , Camp N.J. , Farnham J.M. , Allen-Brady K. , Cannon-Albright L.A. .
Source: Annals of human genetics, 2008 Mar; 72(Pt 2), p. 279-87.
EPub date: 2007-12-18.
PMID: 18093282
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Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation.
Authors: Eliason M.J. , Hansen C.B. , Hart M. , Porter-Gill P. , Chen W. , Sturm R.A. , Bowen G. , Florell S.R. , Harris R.M. , Cannon-Albright L.A. , et al. .
Source: Archives of dermatology, 2007 Nov; 143(11), p. 1409-12.
PMID: 18025365
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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Authors: Goldstein A.M. , Chan M. , Harland M. , Hayward N.K. , Demenais F. , Bishop D.T. , Azizi E. , Bergman W. , Bianchi-Scarra G. , Bruno W. , et al. .
Source: Journal of medical genetics, 2007 Feb; 44(2), p. 99-106.
EPub date: 2006-08-11.
PMID: 16905682
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Population-based assessment of non-melanoma cancer risk in relatives of cutaneous melanoma probands.
Authors: Larson A.A. , Leachman S.A. , Eliason M.J. , Cannon-Albright L.A. .
Source: The Journal of investigative dermatology, 2007 Jan; 127(1), p. 183-8.
EPub date: 2006-08-10.
PMID: 16902418
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High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Authors: Goldstein A.M. , Chan M. , Harland M. , Gillanders E.M. , Hayward N.K. , Avril M.F. , Azizi E. , Bianchi-Scarra G. , Bishop D.T. , Bressac-de Paillerets B. , et al. .
Source: Cancer research, 2006-10-15; 66(20), p. 9818-28.
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Population-based prevalence of CDKN2A mutations in Utah melanoma families.
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Source: The Journal of investigative dermatology, 2006 Mar; 126(3), p. 660-6.
PMID: 16397522
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Population-based analysis of prognostic factors and survival in familial melanoma.
Authors: Florell S.R. , Boucher K.M. , Garibotti G. , Astle J. , Kerber R. , Mineau G. , Wiggins C. , Noyes R.D. , Tsodikov A. , Cannon-Albright L.A. , et al. .
Source: Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2005-10-01; 23(28), p. 7168-77.
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Identification and study of Utah pseudo-isolate populations-prospects for gene identification.
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