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Polymorphisms of nucleotide excision repair genes predict melanoma survival.

Publication ,  Journal Article
Li, C; Yin, M; Wang, L-E; Amos, CI; Zhu, D; Lee, JE; Gershenwald, JE; Grimm, EA; Wei, Q
Published in: J Invest Dermatol
July 2013

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.

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Published In

J Invest Dermatol

DOI

EISSN

1523-1747

Publication Date

July 2013

Volume

133

Issue

7

Start / End Page

1813 / 1821

Location

United States

Related Subject Headings

  • Young Adult
  • Xeroderma Pigmentosum Group D Protein
  • Xeroderma Pigmentosum
  • Transcription Factors
  • Survival Rate
  • Skin Neoplasms
  • Proportional Hazards Models
  • Prognosis
  • Polymorphism, Single Nucleotide
  • Nuclear Proteins
 

Citation

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Li, C., Yin, M., Wang, L.-E., Amos, C. I., Zhu, D., Lee, J. E., … Wei, Q. (2013). Polymorphisms of nucleotide excision repair genes predict melanoma survival. J Invest Dermatol, 133(7), 1813–1821. https://doi.org/10.1038/jid.2012.498
Li, Chunying, Ming Yin, Li-E Wang, Christopher I. Amos, Dakai Zhu, Jeffrey E. Lee, Jeffrey E. Gershenwald, Elizabeth A. Grimm, and Qingyi Wei. “Polymorphisms of nucleotide excision repair genes predict melanoma survival.J Invest Dermatol 133, no. 7 (July 2013): 1813–21. https://doi.org/10.1038/jid.2012.498.
Li C, Yin M, Wang L-E, Amos CI, Zhu D, Lee JE, et al. Polymorphisms of nucleotide excision repair genes predict melanoma survival. J Invest Dermatol. 2013 Jul;133(7):1813–21.
Li, Chunying, et al. “Polymorphisms of nucleotide excision repair genes predict melanoma survival.J Invest Dermatol, vol. 133, no. 7, July 2013, pp. 1813–21. Pubmed, doi:10.1038/jid.2012.498.
Li C, Yin M, Wang L-E, Amos CI, Zhu D, Lee JE, Gershenwald JE, Grimm EA, Wei Q. Polymorphisms of nucleotide excision repair genes predict melanoma survival. J Invest Dermatol. 2013 Jul;133(7):1813–1821.
Journal cover image

Published In

J Invest Dermatol

DOI

EISSN

1523-1747

Publication Date

July 2013

Volume

133

Issue

7

Start / End Page

1813 / 1821

Location

United States

Related Subject Headings

  • Young Adult
  • Xeroderma Pigmentosum Group D Protein
  • Xeroderma Pigmentosum
  • Transcription Factors
  • Survival Rate
  • Skin Neoplasms
  • Proportional Hazards Models
  • Prognosis
  • Polymorphism, Single Nucleotide
  • Nuclear Proteins