The Melanoma Genetics Consortium, comprising groups with diverse expertise from the USA, Europe and Australia, was established in 1997 to facilitate research into: -- the identification and characterisation of melanoma susceptibility genes, and -- the interactions of the effects of these genes with each other, and with relevant environmental exposures -chiefly solar ultraviolet (UV) radiation - in melanoma tumorigenesis. These goals will only be achieved by conducting sufficiently large studies of genetically diverse populations experiencing a range of environmental exposures: objectives beyond the capacity of any single group. The current proposal is specifically motivated by the Consortium's success, over a short period of time, in: --rapidly integrating information from the large number of multiple-case melanoma kindreds ascertained by its individual groups and initiating comparative penetrance and linkage studies, and -- successfully initiating new collaborative projects to map and identify melanoma predisposition genes over the past two years, which have identified significant new candidate loci for melanoma susceptibility genes. The general objectives of this proposal are: -- to maximise the epidemiological and genetic information derived from multiple-case melanoma kindreds ascertained by the Consortium in three continents

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Research Project (R01)
Project #
5R01CA083115-05
Application #
6943539
Study Section
Special Emphasis Panel (ZRG1-SNEM-1 (05))
Program Officer
Seminara, Daniela
Project Start
2001-09-30
Project End
2006-08-31
Budget Start
2005-09-01
Budget End
2006-08-31
Support Year
5
Fiscal Year
2005
Total Cost
$1,359,047
Indirect Cost
Name
University of Pennsylvania
Department
Pathology
Type
Schools of Medicine
DUNS #
042250712
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
Potrony, M; Puig-Butille, J A; Ribera-Sola, M et al. (2018) POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families. Br J Dermatol :
Zhang, Tongwu; Choi, Jiyeon; Kovacs, Michael A et al. (2018) Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes. Genome Res 28:1621-1635
Taylor, Nicholas J; Mitra, Nandita; Goldstein, Alisa M et al. (2017) Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. J Invest Dermatol 137:2606-2612
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Puig-Butille, Joan Anton; Gimenez-Xavier, Pol; Visconti, Alessia et al. (2017) Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis. Oncotarget 8:11589-11599
Potrony, Miriam; Carreras, Esther; Aranda, Fernando et al. (2016) Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival. Int J Cancer 139:1297-302
Puig, Susana; Potrony, Miriam; Cuellar, Francisco et al. (2016) Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. Genet Med 18:727-36
Lacouture, Mario E; Dréno, Brigitte; Ascierto, Paolo Antonio et al. (2016) Characterization and Management of Hedgehog Pathway Inhibitor-Related Adverse Events in Patients With Advanced Basal Cell Carcinoma. Oncologist 21:1218-1229
Vuong, Kylie; Armstrong, Bruce K; Weiderpass, Elisabete et al. (2016) Development and External Validation of a Melanoma Risk Prediction Model Based on Self-assessed Risk Factors. JAMA Dermatol 152:889-96

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