An Association between Single Nucleotide Polymorphisms of Lys751Gln<i>ERCC2</i>Gene and Ovarian Cancer in Polish Women

Michalska, Magdalena; Samulak, Dariusz; Romanowicz, Hanna; Sobkowski, Maciej; Smolarz, Beata

doi:10.1155/2015/109593

Cited by 9 publications

(9 citation statements)

References 24 publications

(32 reference statements)

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“…Mutations associated with ↑ risk [73] N/A Response to PARPi (in vivo and in vitro evidence) [ [237] SNPs associated with prognosis [238] SNP associated with severe neutropenia in patients treated by cisplatin-based chemotherapy [239] ERCC1 N/A SNPs associated with ↑ OS [240] SNP associated with ↑ risk of nephrotoxicity in patients treated by cisplatin-based chemotherapy [239] Direct repair MGMT N/A N/A Likely to drive chemoresistance [170] ALKB N/A N/A ALKBH5 downregulation contributes to PARPi resistance in BRCA-deficient EOC [241] Author Contributions: Writing-original draft preparation, K.T., A.C., J.H., K.K. ; writing-review and editing, R.V., L.V., P.V.…”

Section: Brca1mentioning

confidence: 99%

DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome

Tomášová

Čumová

Šeborová

et al. 2020

Cancers

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There is ample evidence for the essential involvement of DNA repair and DNA damage response in the onset of solid malignancies, including ovarian cancer. Indeed, high-penetrance germline mutations in DNA repair genes are important players in familial cancers: BRCA1, BRCA2 mutations or mismatch repair, and polymerase deficiency in colorectal, breast, and ovarian cancers. Recently, some molecular hallmarks (e.g., TP53, KRAS, BRAF, RAD51C/D or PTEN mutations) of ovarian carcinomas were identified. The manuscript overviews the role of DNA repair machinery in ovarian cancer, its risk, prognosis, and therapy outcome. We have attempted to expose molecular hallmarks of ovarian cancer with a focus on DNA repair system and scrutinized genetic, epigenetic, functional, and protein alterations in individual DNA repair pathways (homologous recombination, non-homologous end-joining, DNA mismatch repair, base- and nucleotide-excision repair, and direct repair). We suggest that lack of knowledge particularly in non-homologous end joining repair pathway and the interplay between DNA repair pathways needs to be confronted. The most important genes of the DNA repair system are emphasized and their targeting in ovarian cancer will deserve further attention. The function of those genes, as well as the functional status of the entire DNA repair pathways, should be investigated in detail in the near future.

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Section: Brca1mentioning

confidence: 99%

DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome

Tomášová

Čumová

Šeborová

et al. 2020

Cancers

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“…A number of molecular epidemiological studies have shown that polymorphisms of ERCC1 and ERCC2 genes can affect susceptibility towards colorectal cancer [6], lung cancer, larynx cancer [10], ovarian cancer [14], glioma [12]. Sileng A. and et al (2016) observed an risk-increase in pancreatic cancer for those who carry minor alleles of the polymorphic variant of ERCC2 rs13181 gene [5].…”

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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“…It has been demonstrated that this Lys751Gln polymorphism could decrease DNA repair capacity [ 46 ]. In a study conducted in Poland with 430 patients and 430 controls, Magdalena et al [ 47 ] found that the Gln/Gln genotype of rs13181 is associated with an increased risk of ovarian cancer. In our earlier study investigation of the association between two XPD polymorphisms (rs238406 and rs13181) and esophageal squamous cell carcinomas risk, we found that rs238406, but not rs13181, was associated with elevated disease risk [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Relevance of XPD polymorphisms to neuroblastoma risk in Chinese children: a four-center case-control study

Cheng

Zhang

Xin

et al. 2018

Aging

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Neuroblastoma is a lethal tumor that commonly occurs in children. Polymorphisms in XPD reportedly influence risk for several types of cancer, though their roles in neuroblastoma remain unclear. Here we endeavored to determine the relevance of XPD gene polymorphisms and neuroblastoma susceptibility in Chinese children genotyping three XPD polymorphisms (rs3810366, rs13181 and rs238406) in 505 cases and 1070 controls and assessing their contributions to neuroblastoma risk. Overall, we detected no significant association between any single XPD genotype and neuroblastoma risk. When risk genotypes were combined, however, we found that patients with 2-3 risk genotypes were more likely to develop neuroblastoma (adjusted odds ratio =1.31; 95% confidence interval =1.06-1.62, P=0.013) than those with 0-1 risk genotypes. Stratification analysis of rs3810366 revealed significant relationships between the subgroups age ≤18 months and clinical stage I+II+4s and neuroblastoma risk. Moreover, the presence of 2-3 risk genotypes was significantly associated with increased neuroblastoma risk in the subgroups age ≤18 months, male, tumor originated from others, and clinical stage I+II+4s. Our findings provide novel insight into the genetic underpinnings of neuroblastoma and demonstrate that XPD polymorphisms may have a cumulative effect on neuroblastoma risk.

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An Association between Single Nucleotide Polymorphisms of Lys751GlnERCC2Gene and Ovarian Cancer in Polish Women

Cited by 9 publications

References 24 publications

DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome

DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome

Gene Polymorphism of DNA Excision Repair in Pathogenesis of Malignancy

Relevance of XPD polymorphisms to neuroblastoma risk in Chinese children: a four-center case-control study

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