BACKGROUND: Genetic alterations can result in DNA repair defects, increasing
susceptibility to breast cancer. The aim of this study was to evaluate the
involvement of two DNA repair genes, ERCC1 (rs3212986, GenBank NC_000073.9) and
ERCC2 (rs1799793, rs13181, GenBank: NC_000019.10) in the occurrence of breast
cancer in Burkina Faso.
METHODS: This case-control study enrolled 128 participants including 64 patients
and 64 healthy controls. Genotyping of polymorphisms were performed by real-time
PCR and PCR-RFLP.
RESULTS: The heterozygous AC genotype of the ERCC2rs13181 polymorphism was
associated with the occurrence of breast cancer when the mutant allele is
inherited under the dominant pattern (CC/AC vs AA; OR = 2.74, 95% IC
(1.09-6.87); p = .028), but this association became insignificant after the
Bonferroni correction (p = .156). No association was observed between
ERCC1rs3212986 and ERCC2rs1799793 polymorphisms and breast cancer risk.
CONCLUSION: This study showed that the heterozygous genotype (CA) of the
ERCC2rs13181 polymorphism may be associated with a risk of breast cancer.
ERCC1; ERCC2; Burkina Faso; breast cancer; polymorphism.