The presence of the intron 3 16 bp duplication polymorphism of p53 (rs17878362) in breast cancer is associated with a low {Delta}40p53:p53 ratio and better outcome

This study aimed to determine if rs17878362 was associated with altered 40p53 and p53 expression and outcome in breast cancer. We sequenced p53 in breast tumours from 139 patients and compared this with 40p53 and p53 mRNA expression. We found that the ratio of 40p53:p53 was significantly lower in tumours homozygous for the polymorphic A2 allele compared with those who were wild-type (A1/A1). Furthermore, there was a lower proportion of breast cancers carrying the A2 allele from patients who subsequently developed metastasis compared with those that did not. Finally, we show that patients whose tumours carried the polymorphic A2 allele had significantly better disease-free survival. These results show that rs17878362 is associated with a low 40p53:p53 ratio in breast cancer and that this is associated with better outcome.
Source: Carcinogenesis - Category: Cancer & Oncology Authors: Tags: Original Manuscript Source Type: research