title: Gastric cardia carcinoma is associated with the promoter -77T>C gene polymorphism of X-ray cross-complementing group 1 (XRCC1).
abstract: OBJECTIVE
  X-ray repair cross complementing group 1 (XRCC1) is one of the major DNA repair proteins involved in the bas-excision repair pathway. Several single-nucleotide polymorphisms in the XRCC1 gene are identified and related with increased cancer risk development. In particular, the -77T>C polymorphism located on the promoter region relates with lung cancer risk development. The aim of this study is to analyze the -77T>C allelic frequencies in a population composed of 456 primary gastric cancer patients (GC) and 507 blood donor controls.
  
  
  METHODS
  GC patients were observed at the University of Siena, Italy; clinicopathological data and family history were available for the cancer group. The control group is composed of blood donors. Constitutional genomic DNA was PCR amplified, and XRCC1 -77T>C was detected using restriction enzyme BsrB I and analyzed in a 3% agarose gel.
  
  
  RESULTS
  The -77C>C homozygous genotype was significantly associated with increased risk of gastric cardia carcinoma (p = 0.023) with an odds ratio of 1.65 (95% confidence interval 1.14 to 2.4). In the family history stratification, we report a significant association (p = 0.043) between the -77T>C polymorphism and GC cases with familial lung cancer aggregation.
  
  
  CONCLUSIONS
  Our results suggest that the XRCC1 -77T>C polymorphism is a relevant host susceptibility factor for gastric cardia cancer development and specific subsets of familial clustering of GC.
authors: Department of Human Pathology and Oncology, Section of General Surgery and Surgical Oncology, Translational Research Laboratory, University of Siena, Siena, Italy, corso5@unsi.it.
authors: Giovanni
authors: G
authors: Corso
authors: Daniele
authors: D
authors: Marrelli
authors: Corrado
authors: C
authors: Pedrazzani
authors: José Carlos
authors: JC
authors: Machado
authors: Stefano
authors: S
authors: Mancini
authors: Raquel
authors: R
authors: Seruca
authors: Franco
authors: F
authors: Roviello
mesh_terms: D002299:Cardia; D004260:DNA Repair; D005260:Female; D005784:Gene Amplification; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D013274:Stomach Neoplasms / Q000235:genetics*