Genetic Variations of DNA Repair Genes in Breast Cancer

Özgöz, Asuman; Öztürk, Kuyaş Hekimler; Yükseltürk, Ayşegül; Şamlı, Hale; Başkan, Zuhal; İçduygu, Fadime Mutlu; Bacaksız, Mehmet

doi:10.1007/s12253-017-0322-3

Cited by 17 publications

(15 citation statements)

References 29 publications

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“…While the Gln allele of rs25487 leads to a reduction in BER DNA repair activity [24]. Also in this case, the results about the frequency of genotypes of XRCC1-rs1799782 (Arg to Trp) and rs25487 (Arg to Gln) and the BC susceptibility are contrasting [21,[68][69][70][71][72][73][74][75][76][77]. In our study, the XRCC1-rs25487 polymorphism is nominally associated with family history of BC in two genetic models.…”

Section: Discussionmentioning

confidence: 99%

MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia

et al. 2020

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Background: Despite conflicting results, considerable evidence suggests the association between single nucleotide polymorphisms in MTHFR, XRCC1 and OGG1 genes and, risk of developing breast cancer. Here a case-control study is reported, including 135 breat cancer patients and 112 healthy women, all representative of Northern Sardinian population. Methods: Polymerase chain reaction/restriction fragment length polymorphism method was used to determine the genotypes of five polymorphisms: MTHFR C677T (rs1801133) and A1298C (rs1801131), XRCC1 Arg194Trp (rs1799782) and Arg399Gln (rs25487) and OGG1 Ser326Cys (rs1052133). Allelic, genotypic and haplotype association analyses with disease risk and clinicopathological parameters were performed. Results: A nominally significant association with breast cancer risk was observed for MTHFR C677T polymorphism heterozygous genotype in the codominant model (OR: 0.57, 95% CI: 0.32-1.00, p = 0.049) and for Cys/Cys genotype of the OGG1 Ser326Cys polymorphism in the recessive model (OR: 0.23, 95% CI: 0.05-1.11, p = 0.0465). No significant differences were found at genotype-level for A1298C polymorphism of the MTHFR gene and Arg194Trp and Arg399Gln of the XRCC1 gene. Furthermore, the OGG1 and XRCC1 rs25487 polymorphisms were nominally associated with PgR, Her2 status and with sporadic breast cancer, respectively. Conclusions: Based on genetic characteristics of individuals included in this study, results suggest that MTHFR CT and OGG1 Cys/Cys genotypes have a protective effect that may have an influence on breast cancer risk in a representative Northern Sardinian population.

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Section: Discussionmentioning

confidence: 99%

MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia

et al. 2020

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“…Single nucleotide polymorphism molecular analysis could facilitate prognosis, diagnosis, and remedy of human disorders (13). With the crucial roles of DNA repairing machinery components in human genome integrity, it is possible to reveal significant appearances of nucleotide changes in the DNA repair genes and the risk of malignancies (14). Preliminary investigations have shown several SNPs in the XRCC1 and ERCC1 genes involved in tumorigenesis.…”

Section: Introductionmentioning

confidence: 99%

Association of Genetic Variations in XRCC1 and ERCC1 Genes with Sporadic Breast Cancer

et al. 2018

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Background: Recently, findings have validated the significant role of DNA damage genes related to the pathogenesis of breast cancer (BC). The aim of the present investigation was to evaluate possibility roles of two common XRCC1 (rs25487; A > G) and ERCC1 (rs3212964; A > G) gene polymorphisms with the risk of sporadic BC. Methods: This was a case-control study, consisting of 100 females identified with sporadic BC and 100 malignancy-free females as the control group. This study used Tetra-ARMS Polymerase Chain Reaction (PCR) and PCR-Restriction Fragment Length Polymorphism (RFLP) methods to determine genotype frequencies of XRCC1 and ERCC1 genes. Results: The findings did not reveal a statistically significant difference in the genotype frequencies of XRCC1 and ERCC1 genes between the two groups (P > 0.05). The frequency of G mutant allele for XRCC1 and ERCC genes was higher in cases compared to controls, while the difference between the groups was not statistically significant (P = 0.202; OR: 1.312; CI: 0864 -1.994), (P = 0.352; OR: 1.213; CI: 0.808 -1.820). Conclusions:The current results provide evidence against the hypothesis that XRCC1 (rs25487) and ERCC1 (rs3212964) gene polymorphisms may be associated with a predisposition to sporadic BC.

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“…In the study conducted by A.Özgöz and co-authors (2017), a connection between rs13181 and a risk of breast cancer could not be detected. The distribution of the alleles of the polymorphic variants of ERCC2 rs1799793 gene and XPC rs2228000, rs2228001 gene did not reveal a connection with histopathological characteristics and a risk of breast cancer [2]. Recently, various studies have focused on the relations between polymorphism in XPA gene and carcinogenesis [1].…”

Section: Discussionmentioning

confidence: 96%

“…Polymorphisms in DNA repair genes can cause a decrease in ability to restore DNA due to a disorder in the functional characteristics of the encoded proteins. In turn, the accumulation of errors leads to instability of the genome and to carcinogenesis development [2]. However, there are no definitive conclusions about the role of polymorphism of DNA repair genes in relation to malignancy development; or they have not been found.…”

Section: Discussionmentioning

confidence: 99%

Gene Polymorphism of DNA Excision Repair in Pathogenesis of Malignancy

Dzhambetova¹,

Bisultanova²,

Atsayeva³

2019

Proceedings of the International Conference on Health and Well-Being in Modern Society (ICHW 2019)

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The interaction towards a risk of breast cancer in the ethnically homogeneous group of the Chechens and the polymorphism of DNA repair genes was studied: XPC (rs2228000, rs2228001) XPA (rs 1800975) ERCC2 (rs13181; rs1799793). DNA samples taken from venous blood of 241 women diagnosed with breast cancer and of other 300 representatives of a control group were used. According to the study, no significant connection was found between the alleles of the studied polymorphisms of DNA repair and breast cancer genes; the exception is in a minor allele of ERCC2 rs13181 gene (OR = 1.33 with 95 % CI 1.06-1.79). However, regression analysis revealed some significant links (p <0.05) between XPC rs2228000 polymorphism and a risk in developing breast cancer OR = 4.80 (95 % CI 1.56-14.78) and OR = 8.95 (95 % CI 2.92-27.44), respectively. Also, reliable connections were noted for recessive model AA / CA + CC of the XPC gene (rs2228001): OR = 0.63 (95 % CI 0.40-0.98). Likewise, some significant associations (p <0.05) were observed in TT / TG + GG recessive models of polymorphic variants of ERCC2 rs13181 OR = 2.39 95 % CI 1.30-4.39 and AA / AG + GG rs1799793 (OR = 2.26 95 % CI 1.33-3.83). The experiment results showed that recessive GG homozygote raises a possibility towards breast tumor formations (OR = 2.39 with 95 % CI 1.30-4.39) and can be used in a diagnostic panel to determine a risk rate in breast cancer in the Chechen population.

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Genetic Variations of DNA Repair Genes in Breast Cancer

Cited by 17 publications

References 29 publications

MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia

MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia

Association of Genetic Variations in XRCC1 and ERCC1 Genes with Sporadic Breast Cancer

Gene Polymorphism of DNA Excision Repair in Pathogenesis of Malignancy

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