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Tumor Biology

, Volume 36, Issue 3, pp 1539–1548

First Online: 06 November 2014Received: 09 July 2014Accepted: 07 October 2014

Abstract

Polymorphisms in DNA repair genes impact on the synthesis of DNA repair proteins that are crucial to the repair of DNA damages induced by chemotherapy and radiotherapy. We retrospectively examined whether there was an association between the selected six single nucleotide polymorphisms SNPs of five DNA repair genes PARP1-Val762Ala, XRCC1-Arg194Trp, XRCC1-Arg399Gln, XPC-Lys939Gln, BRCA1-Lys1183Arg, and BRCA2-Asn372His and the clinical outcome of patients with primary small cell carcinoma of esophagus SCCE, and it showed that the median progression-free survival PFS and the overall survival OS were 11.8 versus 9.7 months P = 0.041 and 17.4 versus 14.8 months P = 0.032 for patients carrying the variant allele T-C + C-C and the wild-type allele T-T of PARP1-Val762Ala polymorphism, respectively. However, no statistical significance was observed in the other five polymorphic loci P > 0.05. When these six SNPs were combined, however, patients with at least three variant genotypes had significantly longer PFS and OS compared with those carrying less than three variant genotypes P = 0.009 and P = 0.007, respectively. The presence of at least three polymorphic variants in certain DNA repair genes may impact on patient survival and could be a potential genomic predictor of clinical response to DNA-damaging treatment in SCCE patients.

KeywordsClinical outcome DNA repair gene Esophageal small cell carcinoma PARP1 XRCC1 XPC BRCA1 BRCA2 Genetic polymorphism AbbreviationsSCCESmall cell carcinoma of esophagus

SNPsSingle nucleotide polymorphisms

PARP1PolyADP-ribose polymerase 1

XRCC1X-ray repair cross-complementing protein 1

XPCXeroderma pigmentosum group C

BRCA1-2Breast cancer susceptibility gene 1-2

PFSProgression-free survival

OSOverall survival

Qiang Zhou and Bing-Wen Zou contributed equally to this work.

Electronic supplementary materialThe online version of this article doi:10.1007-s13277-014-2718-y contains supplementary material, which is available to authorized users.

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Source: https://link.springer.com/article/10.1007/s13277-014-2718-y



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