Involvement of p.R72P and PIN3 Ins16bp (TP53) polymorphisms and the I157T (CHEK2) mutation in breast cancer occurrence in Burkina FasoInvolvement of p.R72P and PIN3 Ins16bp (TP53) polymorphisms and the I157T (CHEK2) mutation in breast cancer occurrence in Burkina Faso

---

Résumé

Abstract
Background: The TP53 and CHEK2 genes have been described as breast cancer susceptibility genes and some of their polymorphisms have been associated with an increased risk of breast cancer in certain populations. The objective of this study was to investigate the p.R72P and PIN3 Ins16bp (TP53) polymorphisms and the I157T (CHEK2) mutation.Methods and results: This case-control study had enrolled 144 participants including 65 cases (breast cancer patients) and 79 controls (women without breast abnormalities). The genotyping of polymorphisms was performed by ASO-PCR (Allele Specific Oligonucleotides - Polymerase Chain Reaction) and PCR-RFLP (Polymerase Chain Reaction - Restriction Fragment Length Polymorphism) techniques.The heterozygous mutated genotype (RP) of the p.R72P polymorphism was in the majority in cases (73.85%) and controls (73.42%). As for the PIN3 Ins16bp polymorphism, the homozygous wild type (A1A1) was the most represented in both cases (53.85%) and controls (60.76%). Concerning the I157T mutation, only one (01) patient was homozygous mutant (TT) and no controls had the mutation. This study found no association between these polymorphisms and the risk of breast cancer occurrence (p.R72P (OR=0.96; 95%IC (0.59-1.56); p=0.471), PIN3 Ins16bp (OR= 1.1; 95%IC (0.61-1.98); p=0.420)).Conclusion: This study showed that the mutated allele of the p.R72P polymorphism versus the wild-type allele of the PIN3 Ins16bp polymorphism were in the majority. The I157T mutation was very rare. These polymorphisms were not associated with the risk of developing breast cancer.

Mots-clés

breast cancer, TP53, CHEK2, genetic susceptibility, breast cancer risk, Burkina Faso