Skip Navigation
Grant Details

Grant Number: 1R01CA102422-01 Interpret this number
Primary Investigator: Cannon-Albright, Lisa
Organization: University Of Utah
Project Title: Identification of Melanoma Predisposition Loci
Fiscal Year: 2003
Back to top


Abstract

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.

Back to top


Publications

Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.
Authors: Hawkes JE, Cassidy PB, Manga P, Boissy RE, Goldgar D, Cannon-Albright L, Florell SR, Leachman SA
Source: J Dermatol Sci, 2013 Jan;69(1), p. 30-7.
EPub date: 2012 Oct 13.
PMID: 23103111
Related Citations

Back to top


Linkage analysis of extended high-risk pedigrees replicates a cutaneous malignant melanoma predisposition locus on chromosome 9q21.
Authors: Cannon-Albright LA, Teerlink CC, Farnham JM, Thomas AW, Zone JJ, Leachman SA
Source: J Invest Dermatol, 2013 Jan;133(1), p. 128-34.
EPub date: 2012 Sep 6.
PMID: 22951724
Related Citations

Back to top


Genome-wide association study identifies three new melanoma susceptibility loci.
Authors: Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril MF, Azizi E, Bakker B, Bergman W, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, D?bniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Höiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jönsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubi?ski J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JA, Bishop DT, GenoMEL Consortium
Source: Nat Genet, 2011 Oct 9;43(11), p. 1108-13.
EPub date: 2011 Oct 9.
PMID: 21983787
Related Citations

Back to top


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 NJ, Thomas A, Leachman S, Cannon-Albright L
Source: Hum Genet, 2012 Jan;131(1), p. 77-85.
EPub date: 2011 Jun 26.
PMID: 21706340
Related Citations

Back to top


Genome-wide association study identifies three loci associated with melanoma risk.
Authors: Bishop DT, Demenais F, Iles MM, Harland M, Taylor JC, Corda E, Randerson-Moor J, Aitken JF, Avril MF, Azizi E, Bakker B, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Chin-A-Woeng T, Debniak T, Galore-Haskel G, Ghiorzo P, Gut I, Hansson J, Hocevar M, Höiom V, Hopper JL, Ingvar C, Kanetsky PA, Kefford RF, Landi MT, Lang J, Lubi?ski J, Mackie R, Malvehy J, Mann GJ, Martin NG, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Puig S, Weiss M, van Workum W, Zelenika D, Brown KM, Goldstein AM, Gillanders EM, Boland A, Galan P, Elder DE, Gruis NA, Hayward NK, Lathrop GM, Barrett JH, Bishop JA
Source: Nat Genet, 2009 Aug;41(8), p. 920-5.
EPub date: 2009 Jul 5.
PMID: 19578364
Related Citations

Back to top


Increased melanocytic nevi and nevus density in a G-34T CDKN2A/p16 melanoma-prone pedigree.
Authors: Florell SR, Meyer LJ, Boucher KM, Grossman D, Cannon-Albright LA, Harris RM, Samlowski WE, Zone JJ, Leachman SA
Source: J Invest Dermatol, 2008 Aug;128(8), p. 2122-5.
EPub date: 2008 Mar 13.
PMID: 18337833
Related Citations

Back to top


Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays.
Authors: Thomas A, Camp NJ, Farnham JM, Allen-Brady K, Cannon-Albright LA
Source: Ann Hum Genet, 2008 Mar;72(Pt 2), p. 279-87.
EPub date: 2007 Dec 18.
PMID: 18093282
Related Citations

Back to top


Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation.
Authors: Eliason MJ, Hansen CB, Hart M, Porter-Gill P, Chen W, Sturm RA, Bowen G, Florell SR, Harris RM, Cannon-Albright LA, Swinyer L, Leachman SA
Source: Arch Dermatol, 2007 Nov;143(11), p. 1409-12.
PMID: 18025365
Related Citations

Back to top


High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Authors: Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, Azizi E, Bianchi-Scarra G, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon Albright LA, Demenais F, Elder DE, Ghiorzo P, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Niendorf K, Newton Bishop J, Palmer JM, Puig S, Puig-Butille JA, de Snoo FA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E, Melanoma Genetics Consortium (GenoMEL)
Source: Cancer Res, 2006 Oct 15;66(20), p. 9818-28.
PMID: 17047042
Related Citations

Back to top


Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Authors: Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, Azizi E, Bergman W, Bianchi-Scarra G, Bruno W, Calista D, Albright LA, Chaudru V, Chompret A, Cuellar F, Elder DE, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, MacKie RM, Magnusson V, Mann GJ, Bishop JN, Palmer JM, Puig S, Puig-Butille JA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E, Lund Melanoma Study Group, Melanoma Genetics Consortium (GenoMEL)
Source: J Med Genet, 2007 Feb;44(2), p. 99-106.
EPub date: 2006 Aug 11.
PMID: 16905682
Related Citations

Back to top


Population-based assessment of non-melanoma cancer risk in relatives of cutaneous melanoma probands.
Authors: Larson AA, Leachman SA, Eliason MJ, Cannon-Albright LA
Source: J Invest Dermatol, 2007 Jan;127(1), p. 183-8.
EPub date: 2006 Aug 10.
PMID: 16902418
Related Citations

Back to top


Population-based prevalence of CDKN2A mutations in Utah melanoma families.
Authors: Eliason MJ, Larson AA, Florell SR, Zone JJ, Cannon-Albright LA, Samlowski WE, Leachman SA
Source: J Invest Dermatol, 2006 Mar;126(3), p. 660-6.
PMID: 16397522
Related Citations

Back to top


Population-based analysis of prognostic factors and survival in familial melanoma.
Authors: Florell SR, Boucher KM, Garibotti G, Astle J, Kerber R, Mineau G, Wiggins C, Noyes RD, Tsodikov A, Cannon-Albright LA, Zone JJ, Samlowski WE, Leachman SA
Source: J Clin Oncol, 2005 Oct 1;23(28), p. 7168-77.
PMID: 16192601
Related Citations

Back to top


Identification and study of Utah pseudo-isolate populations-prospects for gene identification.
Authors: Cannon-Albright LA, Farnham JM, Thomas A, Camp NJ
Source: Am J Med Genet A, 2005 Sep 1;137A(3), p. 269-75.
PMID: 16096997
Related Citations

Back to top