Laboratory of Molecular and Genetic Biology (LABIOGENE), Joseph KI-ZERBO University, Toma, Burkina Faso.
Pietro Annigoni Biomolecular Research Center (CERBA), Ouagadougou, Burkina Faso.
Mol Genet Genomic Med. 2023 Apr;11(4):e2134. doi: 10.1002/mgg3.2134. Epub 2023 Jan 3.
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.
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.
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.
This study showed that the heterozygous genotype (CA) of the ERCC2rs13181 polymorphism may be associated with a risk of breast cancer.
基因改变可导致 DNA 修复缺陷，增加乳腺癌的易感性。本研究旨在评估两个 DNA 修复基因 ERCC1（rs3212986，GenBank NC_000073.9）和 ERCC2（rs1799793，rs13181，GenBank：NC_000019.10）在布基纳法索乳腺癌发生中的作用。
本病例对照研究纳入了 128 名参与者，包括 64 名患者和 64 名健康对照。采用实时 PCR 和 PCR-RFLP 法对多态性进行基因分型。
当突变等位基因以显性模式遗传时，ERCC2rs13181 多态性的杂合 AC 基因型与乳腺癌的发生相关（CC/AC 与 AA；OR=2.74，95%CI（1.09-6.87）；p=0.028），但经 Bonferroni 校正后该关联无统计学意义（p=0.156）。ERCC1rs3212986 和 ERCC2rs1799793 多态性与乳腺癌风险之间未见相关性。
本研究表明，ERCC2rs13181 多态性的杂合基因型（CA）可能与乳腺癌风险相关。
