XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: A HuGE review

Maurizio Manuguerra, Federica Saletta, Margaret R. Karagas, Marianne Berwick, Fabrizio Veglia, Paolo Vineis, Giuseppe Matullo

Research output: Contribution to journalArticle

Abstract

Hundreds of polymorphisms in DNA repair genes have been identified; however, for many of these polymorphisms, the impact on repair phenotype and cancer susceptibility remains uncertain. In this review, the authors focused on the x-ray repair cross-complementing protein group 3 (XRCC3) and xeroderma pigmentosum group D (XPD)/excision repair cross-complementing rodent repair deficiency (ERCC2) genes, because they are among the most extensively studied but no final conclusion has yet been drawn about their role in cancer occurrence. XRCC3 participates in DNA double-strand break/recombinational repair through homologous recombination to maintain chromosome stability. XPD/ERCC2 is a helicase involved in the nucleotide excision repair pathway, which recognizes and repairs many structurally unrelated lesions, such as bulky adducts and thymidine dimers. The authors identified a sufficient number of epidemiologic studies on cancer to perform meta-analyses for XPD/ERCC2 variants in codons 156, 312, and 751 and XRCC3 variants in codon 241. The authors evaluated all cancer sites to investigate whether DNA repair is likely to take place in a rather nonspecific manner for different carcinogens and different cancers. For the most part, the authors found no association between these genes and the cancer sites investigated, except for some statistically significant associations between XPD/ERCC2 single nucleotide polymorphisms and skin, breast, and lung cancers.

Original languageEnglish
Pages (from-to)297-302
Number of pages6
JournalAmerican Journal of Epidemiology
Volume164
Issue number4
DOIs
Publication statusPublished - Aug 2006

Fingerprint

Xeroderma Pigmentosum
Single Nucleotide Polymorphism
DNA Repair
X-Rays
Recombinational DNA Repair
Neoplasms
Proteins
Codon
Chromosomal Instability
Double-Stranded DNA Breaks
Neoplasm Genes
Skin Neoplasms
Carcinogens
Thymidine
Genes
Meta-Analysis
Epidemiologic Studies
Rodentia
Lung Neoplasms
Breast Neoplasms

Keywords

  • ERCC2
  • ERCC2 protein, human
  • Genetics
  • Meta-analysis
  • Neoplasms
  • X-ray repair cross complementing protein 3
  • XPD
  • XRCC3

ASJC Scopus subject areas

  • Epidemiology

Cite this

Manuguerra, M., Saletta, F., Karagas, M. R., Berwick, M., Veglia, F., Vineis, P., & Matullo, G. (2006). XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: A HuGE review. American Journal of Epidemiology, 164(4), 297-302. https://doi.org/10.1093/aje/kwj189

XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer : A HuGE review. / Manuguerra, Maurizio; Saletta, Federica; Karagas, Margaret R.; Berwick, Marianne; Veglia, Fabrizio; Vineis, Paolo; Matullo, Giuseppe.

In: American Journal of Epidemiology, Vol. 164, No. 4, 08.2006, p. 297-302.

Research output: Contribution to journalArticle

Manuguerra, M, Saletta, F, Karagas, MR, Berwick, M, Veglia, F, Vineis, P & Matullo, G 2006, 'XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: A HuGE review', American Journal of Epidemiology, vol. 164, no. 4, pp. 297-302. https://doi.org/10.1093/aje/kwj189
Manuguerra, Maurizio ; Saletta, Federica ; Karagas, Margaret R. ; Berwick, Marianne ; Veglia, Fabrizio ; Vineis, Paolo ; Matullo, Giuseppe. / XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer : A HuGE review. In: American Journal of Epidemiology. 2006 ; Vol. 164, No. 4. pp. 297-302.
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