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Polymorphisms of nucleotide excision repair genes predict melanoma survival.

dc.contributor.author Li, Chunying
dc.contributor.author Yin, Ming
dc.contributor.author Wang, Li-E
dc.contributor.author Amos, Christopher I
dc.contributor.author Zhu, Dakai
dc.contributor.author Lee, Jeffrey E
dc.contributor.author Gershenwald, Jeffrey E
dc.contributor.author Grimm, Elizabeth A
dc.contributor.author Wei, Qingyi
dc.date.accessioned 2019-02-01T15:13:44Z
dc.date.available 2019-02-01T15:13:44Z
dc.date.issued 2013-07
dc.identifier S0022-202X(15)36322-3
dc.identifier.issn 0022-202X
dc.identifier.issn 1523-1747
dc.identifier.uri https://hdl.handle.net/10161/17991
dc.description.abstract Melanoma is the most highly malignant skin cancer, and nucleotide excision repair (NER) is involved in melanoma susceptibility. In this analysis of 1,042 melanoma patients, we evaluated whether genetic variants of NER genes may predict survival outcome of melanoma patients. We used genotyping data of 74 tagging single-nucleotide polymorphisms (tagSNPs) in eight core NER genes from our genome-wide association study (including two in XPA, 14 in XPC, three in XPE, four in ERCC1, 10 in ERCC2, eight in ERCC3, 14 in ERCC4, and 19 in ERCC5) and evaluated their associations with prognosis of melanoma patients. Using the Cox proportional hazards model and Kaplan-Meier analysis, we found a predictive role of XPE rs28720291, ERCC5 rs4150314, XPC rs2470458, and ERCC2 rs50871 SNPs in the prognosis of melanoma patients (rs28720291: AG vs. GG, adjusted hazard ratio (adjHR)=11.2, 95% confidence interval (CI) 3.04-40.9, P=0.0003; rs4150314: AG vs. GG, adjHR=4.76, 95% CI 1.09-20.8, P=0.038; rs2470458: AA vs. AG/GG, adjHR=2.11, 95% CI 1.03-4.33, P=0.040; and rs50871: AA vs. AC/CC adjHR=2.27, 95% CI 1.18-4.35, P=0.015). Patients with an increasing number of unfavorable genotypes had markedly increased death risk. Genetic variants of NER genes, particularly XPE rs28720291, ERCC5 rs4150314, XPC rs2470458, and ERCC2 rs50871, may independently or jointly modulate survival outcome of melanoma patients. Because our results were based on a median follow-up of 3 years without multiple test corrections, additional large prospective studies are needed to confirm our findings.
dc.language eng
dc.publisher Elsevier BV
dc.relation.ispartof The Journal of investigative dermatology
dc.relation.isversionof 10.1038/jid.2012.498
dc.subject Humans
dc.subject Melanoma
dc.subject Skin Neoplasms
dc.subject Xeroderma Pigmentosum
dc.subject Endonucleases
dc.subject DNA-Binding Proteins
dc.subject Nuclear Proteins
dc.subject Transcription Factors
dc.subject Prognosis
dc.subject Survival Rate
dc.subject Proportional Hazards Models
dc.subject DNA Repair
dc.subject Genotype
dc.subject Polymorphism, Single Nucleotide
dc.subject Adolescent
dc.subject Adult
dc.subject Aged
dc.subject Aged, 80 and over
dc.subject Middle Aged
dc.subject Female
dc.subject Male
dc.subject Xeroderma Pigmentosum Group D Protein
dc.subject Genome-Wide Association Study
dc.subject Young Adult
dc.subject Kaplan-Meier Estimate
dc.title Polymorphisms of nucleotide excision repair genes predict melanoma survival.
dc.type Journal article
duke.contributor.id Wei, Qingyi|0632334
dc.date.updated 2019-02-01T15:13:43Z
pubs.begin-page 1813
pubs.end-page 1821
pubs.issue 7
pubs.organisational-group School of Medicine
pubs.organisational-group Duke
pubs.organisational-group Duke Cancer Institute
pubs.organisational-group Institutes and Centers
pubs.organisational-group Population Health Sciences
pubs.organisational-group Basic Science Departments
pubs.organisational-group Medicine, Medical Oncology
pubs.organisational-group Medicine
pubs.organisational-group Clinical Science Departments
pubs.publication-status Published
pubs.volume 133
duke.contributor.orcid Wei, Qingyi|0000-0002-3845-9445


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