XRCC3 and XPD/ERCC2 Single Nucleotide Polymorphisms and the Risk of Cancer: A HuGE Review (original) (raw)

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Correspondence to Dr. Giuseppe Matullo, Section of Epidemiology, ISI Foundation, Viale Settimio Severo 65, 10133 Torino, Italy (e-mail: matullo@isiosf.isi.it).

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Accepted:

16 February 2006

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Maurizio Manuguerra, Federica Saletta, Margaret R. Karagas, Marianne Berwick, Fabrizio Veglia, Paolo Vineis, Giuseppe Matullo, XRCC3 and XPD/ERCC2 Single Nucleotide Polymorphisms and the Risk of Cancer: A HuGE Review, American Journal of Epidemiology, Volume 164, Issue 4, 15 August 2006, Pages 297–302, https://doi.org/10.1093/aje/kwj189
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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.

American Journal of Epidemiology Copyright © 2006 by the Johns Hopkins Bloomberg School of Public Health All rights reserved; printed in U.S.A.

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