Association ofp53 codon arg72pro andp73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of japanese breast cancer

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Abstract
The association between breast cancer risk and genetic polymorphisms ofp53 at codon 72 (Arg72Pro) has been investigated by several studies, but the results are not consistent. The aim of this case-control study conducted in Nagoya, Japan, was to reconfirm the results of prior studies of polymorphisms ofp53 Arg72Pro, and to test if polymorphisms ofp73 G4C14-to-A4T14 at exon 2 (G4A) were also associated with breast cancer risk. The cases were 200 breast cancer patients who visited Aichi Cancer Center Hospital. The controls were 282 local citizens who underwent a health check-up. All cases and controls were recruited from Chubu Japan. Genotyping was carried out by Polymerase chain reaction with confronting two-pair primers. Thep53 genotype distribution was 40.4% forArg72 homozygous, 48.9% for heterozygous, and 10.7% forPro72 homozygous in controls, and 32.0%, 50.0%, and 18.0% in cases, respectively. A comparison between cases and controls indicated a significantly increased risk forPro72 homozygosity in cases (odds ratio = 2.14; 95% confidence interval = 1.21-3.79). The genotypic frequencies forp73 G4A were 54.3% forGIG, 39.7% forG/A, and 6.0% forAI A in controls; and 59.0%, 32.0%, and 9.0% in cases, respectively. There were no significant differences inp73 G4A frequency between cases and controls. This study implies an association of breast cancer risk with thep53 polymorphismArg72Pro, but not withp 73 G4A.