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.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.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.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.

Gastric cardia carcinoma is associated with the promoter -77T>C gene polymorphism of X-ray cross-complementing group 1 (XRCC1)

Pedrazzani, Corrado;Mancini, Stefano;
2009-01-01

Abstract

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.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.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.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.
2009
Gastric cancer
Single nucleotide genetic polymorphism
Risk factor
DNA Repair
Female
Gene Amplification
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Lung Neoplasms
Male
Middle Aged
Promoter Regions, Genetic
Stomach Neoplasms
Cardia
Polymorphism, Single Nucleotide
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/1029750
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