Studies of TP53 haplotypes in relation to LOH and TP53 mutations in breast cancer patients

Full text

Case-control studies have reported association between polymorphisms in the TP53 gene and breast cancer [1]. We have examined whether certain alleles or haplotypes show association with loss of heterozygosity (LOH) or mutations in TP53. Our hypothesis is that certain alleles may predispose for breast cancer through a mechanism promoting LOH or mutations. 452 breast cancer patients were genotyped for three intergenic polymorphisms [2,3,4] and one polymorphism located downstream of the gene [5]. The SNPs (Single Nucleotide Polymorphisms) in exon 4 and intron 6 were analysed using the restriction enzymes BstUI and MspI respectively, while the 16 bp insertion in intron 3 and the VNTR downstream of the gene were examined using capillary electrophoresis. LOH and mutation analyses have previously been performed in samples from the same cohort. In conclusion, we were not able to demonstrate any statistical significance implying that any of these polymorphisms were associated with increased risk of LOH or mutation of the TP53 gene.