Association of p53 polymorphisms and colorectal cancer: modulation of risk and progression.

ABSTRACT

OBJECTIVES: p53 Gene variants BstUI RFLP at codon 72 in exon 4, 16bp tandem repeat in intron 3 and MspI RFLP in intron 6, which code for two functionally different protein isoforms, have been shown to modulate susceptibility to different types of human neoplasms. METHODS: p53 genotype was assessed in 90 CRC patients, 321 age-matched controls and 322 centenarians. RESULTS: The p53 codon 72 arginine, the p53 16bp deletion, and the MspI RFLP were significantly more frequent in CRC patients in comparison to the controls and to the centenarians (odd ratio 1.44 and 1.93). In the CRC group, the BstUI RFLP polymorphism was the more frequent combination (62.2%), and it was significantly associated with highly infiltrating (p<0.01), poorly differentiated (p<0.01), and metastatic (p<0.05) tumours. Our findings indicate that the p53 codon 72 polymorphisms are associated with a higher risk of CRC and are associated with more advanced and undifferentiated tumours.