BIOMAT Database Logo BIOMAT Database Logo

Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study. 2021

Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Department of Dermatology, University of North Carolina, Chapel Hill, NC 27599, USA.

Genome-wide association studies (GWAS) and candidate pathway studies have identified low-penetrant genetic variants associated with cutaneous melanoma. We investigated the association of melanoma-risk variants with primary melanoma tumor prognostic characteristics and melanoma-specific survival. The Genes, Environment, and Melanoma Study enrolled 3285 European origin participants with incident invasive primary melanoma. For each of 47 melanoma-risk single nucleotide polymorphisms (SNPs), we used linear and logistic regression modeling to estimate, respectively, the per allele mean changes in log of Breslow thickness and odds ratios for presence of ulceration, mitoses, and tumor-infiltrating lymphocytes (TILs). We also used Cox proportional hazards regression modeling to estimate the per allele hazard ratios for melanoma-specific survival. Passing the false discovery threshold (p = 0.0026) were associations of IRF4 rs12203592 and CCND1 rs1485993 with log of Breslow thickness, and association of TERT rs2242652 with presence of mitoses. IRF4 rs12203592 also had nominal associations (p < 0.05) with presence of mitoses and melanoma-specific survival, as well as a borderline association (p = 0.07) with ulceration. CCND1 rs1485993 also had a borderline association with presence of mitoses (p = 0.06). MX2 rs45430 had nominal associations with log of Breslow thickness, presence of mitoses, and melanoma-specific survival. Our study indicates that further research investigating the associations of these genetic variants with underlying biologic pathways related to tumor progression is warranted.

UI MeSH Term Description Entries
D008545 Melanoma A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445) Malignant Melanoma,Malignant Melanomas,Melanoma, Malignant,Melanomas,Melanomas, Malignant
D011379 Prognosis A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations. Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012878 Skin Neoplasms Tumors or cancer of the SKIN. Cancer of Skin,Skin Cancer,Cancer of the Skin,Neoplasms, Skin,Cancer, Skin,Cancers, Skin,Neoplasm, Skin,Skin Cancers,Skin Neoplasm
D016246 Lymphocytes, Tumor-Infiltrating Lymphocytes that show specificity for autologous tumor cells. Ex vivo isolation and culturing of TIL with interleukin-2, followed by reinfusion into the patient, is one form of adoptive immunotherapy of cancer. Tumor Infiltrating Lymphocyte,Tumor-Derived Activated Cell,Tumor-Derived Activated Cells,Tumor-Infiltrating Lymphocyte,Tumor-Infiltrating Lymphocytes,Activated Cell, Tumor-Derived,Activated Cells, Tumor-Derived,Infiltrating Lymphocyte, Tumor,Infiltrating Lymphocytes, Tumor,Lymphocyte, Tumor Infiltrating,Lymphocyte, Tumor-Infiltrating,Lymphocytes, Tumor Infiltrating,Tumor Derived Activated Cell,Tumor Derived Activated Cells,Tumor Infiltrating Lymphocytes
D055106 Genome-Wide Association Study An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers to identify gene candidates or quantitative trait loci associated with a specific organism trait or specific disease or condition. Genome Wide Association Analysis,Genome Wide Association Study,GWA Study,Genome Wide Association Scan,Genome Wide Association Studies,Whole Genome Association Analysis,Whole Genome Association Study,Association Studies, Genome-Wide,Association Study, Genome-Wide,GWA Studies,Genome-Wide Association Studies,Studies, GWA,Studies, Genome-Wide Association,Study, GWA,Study, Genome-Wide Association

Related Publications

Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Association between tumor characteristics and second primary cancers with cutaneous melanoma survival: A nationwide cohort study.
July 2020, Pigment cell & melanoma research,
Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival.
January 2022, Scientific reports,
Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Association Between NRAS and BRAF Mutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma.
June 2015, JAMA oncology,
Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Sun exposure and melanoma survival: a GEM study.
October 2014, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology,
Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Primary Tumor Thickness is a Prognostic Factor in Stage IV Melanoma: A Retrospective Study of Primary Tumor Characteristics.
January 2018, American journal of clinical oncology,
Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Error in Text. Association Between NRAS and BRAF Mutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma.
June 2015, JAMA oncology,
Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Survival and tumor characteristics of patients presenting with single primary versus second primary melanoma lesions.
May 2023, Journal of the American Academy of Dermatology,
Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Association of genetic variants of TMEM135 and PEX5 in the peroxisome pathway with cutaneous melanoma-specific survival.
March 2021, Annals of translational medicine,
Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Sex-Specific Associations of MDM2 and MDM4 Variants with Risk of Multiple Primary Melanomas and Melanoma Survival in Non-Hispanic Whites.
May 2023, Cancers,
Danielle R Davari, and Irene Orlow, and Peter A Kanetsky, and Li Luo, and Klaus J Busam, and Ajay Sharma, and Anne Kricker, and Anne E Cust, and Hoda Anton-Culver, and Stephen B Gruber, and Richard P Gallagher, and Roberto Zanetti, and Stefano Rosso, and Lidia Sacchetto, and Terence Dwyer, and David C Gibbs, and David W Ollila, and Colin B Begg, and Marianne Berwick, and Nancy E Thomas
Primary localization and tumor thickness as prognostic factors of survival in patients with mucosal melanoma.
January 2014, PloS one,
Copied contents to your clipboard!