Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso. Issue 4 (3rd January 2023)

• Record Type: Journal Article
• Authors: Adico, Marc Donald Wilfried; Zouré, Abdou Azaque; Sombié, Herman Karim; Kiendrebeogo, Touwendpoulimdé Isabelle; Dabré, Soayebo; Amegnona, Lanyo Jospin; Bakyono, Bélélé Siméon; Traoré, Lassina; Ouedraogo, Teega‐Wendé Clarisse; Ouedraogo, Rogomenoma Alice; Zohoncon, Théodora M.; Yonli, Albert Théophane; Bayala, Bagora; Bambara, Hierrhum Aboubacar; Djigma, Florencia W.; Simpore, Jacques
• Is Part Of: Molecular genetics & genomic medicine. Volume 11:Issue 4(2023)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2023-01-03
• Subjects: breast cancer -- Burkina Faso -- ERCC1 -- ERCC2 -- polymorphism; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.2134
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: 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 ERCC1 rs3212986 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. Abstract : 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), especially in premenopausal patients (OR = 3.84, 95% IC (1.12–13.36); p = .025). No association was observed between ERCC1rs3212986 and ERCC2rs1799793 polymorphisms and breast cancer risk.