Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland

Smolarz, Beata; Bryś, Magdalena; Forma, Ewa; Zadrożny, Marek; Bieńkiewicz, Jan; Romanowicz, Hanna

doi:10.1007/s12253-017-0370-8

Cited by 11 publications

(9 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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“…Meta-analyses carried out in 2014 (Qin et al, 2014) and 2017 (Miao et al, 2017) reported no association of the p.Pro871Leu polymorphism and breast cancer risk. Contradictory results have also been reported for the BRCA1 871L allele, as significantly associated with increased risk of breast cancer in a Polish population (Smolarz et al, 2017). An association of the TT genotype with reduced breast cancer risk in Chinese has also been reported (Zhou et al, 2009).…”

Section: Discussionmentioning

confidence: 80%

Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India

et al. 2020

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The polymorphic variants of BRCA1, which lead to amino acid substitutions, have a known pathogenic role in breast cancer. The present study investigated in North Indian breast cancer patients the association of risk with four reported pathogenic variants of BRCA1: c.190T>C (p.Cys64Arg), 1307delT, g.5331G>A (p.G1738R) and c.2612C>T (p.Pro871Leu). Genotyping was done by PCR-RFLP method in 255 clinically confirmed breast cancer patients and 255 age and gender matched healthy individuals. For c.190T>C, 1307delT and g.5331G>A, all the patients and controls had the wild-type genotype indicating no association with breast cancer risk. For c.2612C>T polymorphism, the frequency of the CC, CT, and TT genotypes was 14.5 vs 15.7%, 59.6 vs 53.7% and 25.9 vs 30.6% in breast cancer patients and controls respectively. The frequency of heterozygotes (CT genotype) was higher in cases than controls but the difference was not statistically significant. Genetic model analysis showed no association of the four analyzed BRCA1 variants with breast cancer risk with any model. The studied variants were not associated with the risk of breast cancer in Punjab, North west India, suggesting a need for further screening of other BRCA1 variants. It is the first reported study on these 4 variants from India.

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“…Maertens and co-workers additionally showed an effect on reduction of MMR activity. In more recent studies, re4987188 was also associated with increased risks to vestibular schwannoma (odds ratio (OR) 1.67), recurrent colon cancer, lung cancer (OR 1.29), and breast cancer (OR 10.61) clearly attributed to the A allele in most studies [16,[63][64][65]. From current data, it can therefore be concluded that the A allele, being detected only in NF1 patients with a high tumour burden, serves as a disease modifier towards an increased neurofibroma load.…”

Section: Non-pathogenic Msh2 Variants and Neurofibroma Manifestationmentioning

confidence: 99%

Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?

Harder

2022

Childs Nerv Syst

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Non-pathogenic mismatch repair (MMR) gene variants can be associated with decreased MMR capacity in several settings. Due to an increased mutation rate, reduced MMR capacity leads to accumulation of somatic sequence changes in tumour suppressor genes such as in the neurofibromatosis type 1 (NF1) gene. Patients with autosomal dominant NF1 typically develop neurofibromas ranging from single to thousands. Concerning the number of neurofibromas NF1 patients face a situation that is still not predictable. A few studies suggested that germline non-pathogenic MMR gene variants modify the number of neurofibromas in NF1 and by this mechanism may promote the extent of neurofibroma manifestation. This review represents first evidence that specific non-pathogenic single nucleotide variants of MMR genes act as a modifier of neurofibroma manifestation in NF1, highlighting MSH2 re4987188 as the best analysed non-pathogenic variant so far. In summary, besides MSH2 promotor methylation, specific non-pathogenic germline MSH2 variants are associated with the extent of neurofibroma manifestation. Those variants can serve as a biomarker to facilitate better mentoring of NF1 patients at risk.

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Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland

Cited by 11 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

Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India

Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?

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