Immunohistochemical expression of p53 in breast carcinoma is associated with the intron 1 BglII polymorphism of the p53 gene

Breast carcinoma is a public health problem worldwide. It is known that bot h genetic and environmental factors are important for breast carcinogenesis and that structural and/or functional alterations at p53 gene are commonly observed in breast tumors. In addition, polymorphisms of several genes in either their coding or non-coding sequences have been found related to canc er risk and/or clinicopathological characteristics of tumors. In this study we have evaluated the intron 1 BglII polymorphism of the p53 gene with a P CR-based approach in 117 cases of breast cancer and 102 healthy women and i ts association with the immunohistochemical expression of p53 in the tumors . The results showed that the presence of the polymorphism (allele 2) is hi ghly associated with the tumor expression of p53 (p<0.0001) and that there is a trend for increased frequency of allele 2 in cases than in controls (p =0.2376). These data suggest that the germ-line variation in the intron 1 o f the p53 gene could produce functional or structural changes of the protei n that is reflected by its abnormal expression. (C) 2000 Elsevier Science B .V. All rights reserved.