TopBP1 in DNA Damage Response

Forma, Ewa; Bryś, Magdalena; Krajewska, Wanda M.

doi:10.5772/22274

Cited by 8 publications

(10 citation statements)

References 121 publications

(161 reference statements)

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“…It was noted that a grade three tumor was more often reported in individual cases bearing a T variant allele. In addition, patients with CT or TT genotypes were observed to have elevated levels of TOPBP1 mRNA and protein [40,41].…”

Section: 3’utr Snps and Breast Cancermentioning

confidence: 99%

Breast Cancer and miR-SNPs: The Importance of miR Germ-Line Genetics

Malhotra

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Weidhaas

2019

ncRNA

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Recent studies in cancer diagnostics have identified microRNAs (miRNAs) as promising cancer biomarkers. Single nucleotide polymorphisms (SNPs) in miRNA binding sites, seed regions, and coding sequences can help predict breast cancer risk, aggressiveness, response to stimuli, and prognosis. This review also documents significant known miR-SNPs in miRNA biogenesis genes and their effects on gene regulation in breast cancer, taking into account the genetic background and ethnicity of the sampled populations. When applicable, miR-SNPs are evaluated in the context of other patient factors, including mutations, hormonal status, and demographics. Given the power of miR-SNPs to predict patient cancer risk, prognosis, and outcomes, further study of miR-SNPs is warranted to improve efforts towards personalized medicine.

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Section: 3’utr Snps and Breast Cancermentioning

confidence: 99%

Breast Cancer and miR-SNPs: The Importance of miR Germ-Line Genetics

Malhotra

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Weidhaas

2019

ncRNA

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“…The genotype CC of SET8 rs16917496, a BC candidate gene, was associated with earlier age of onset when compared with TT in Asian patients 76. Another candidate miRSNP, rs115160714, within TOPBP1 , encoding for topoisomerase IIb binding protein 1 (TopBP1), was evaluated in relation to BC by Forma et al in Caucasian patients 77,78. Heterozygotes (CT) and homozygotes (TT) had significantly increased risk for BC compared with common homozygotes (CC).…”

Section: Breast Cancermentioning

confidence: 99%

MicroRNA binding site polymorphisms as biomarkers in cancer management and research

Cipollini¹,

Landi²,

Gemignani³

2014

PGPM

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MicroRNAs (miRNAs) are important regulators of eukaryotic gene expression. They have been implicated in a broad range of biological processes, and miRNA-related genetic alterations probably underlie several human diseases. Single nucleotide polymorphisms of transcripts may modulate the posttranscriptional regulation of gene expression by miRNAs and explain interindividual variability in cancer risk and in chemotherapy response. On the basis of recent association studies published in the literature, the present review mainly summarizes the potential role of miRNAs as molecular biomarkers for disease susceptibility, diagnosis, prognosis, and drug-response prediction in tumors. Many clues suggest a role for polymorphisms within the 3′ untranslated regions of KRAS rs61764370, SET8 rs16917496, and MDM4 rs4245739 as SNPs in miRNA binding sites highly promising in the biology of human cancer. However, more studies are needed to better characterize the composite spectrum of genetic determinants for future use of markers in risk prediction and clinical management of diseases, heading toward personalized medicine.

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“…TopBP1 (topoisomerase IIβ binding protein 1) protein displays structural and functional similarities with BRCA1 and is involved in DNA replication, DNA damage checkpoint response and transcriptional regulation. TopBP1 gene comprising 28 exons in located on chromosome 3q22.1 and encodes a 1522 amino acid proteins [ 3 ]. The most characteristic feature of TopBP1 is that it has eight BRCT (BRCA1 C-terminal) domains [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

“…Following ionizing radiation, TopBP1 is recruited to DNA breaks and co-localizes with Nbs1 (Nijmegen breakage syndrome 1), BRCA1 and 53BP1 (p53-binding protein 1) in nuclear foci. TopBP1 and BRCA1 also co-localize with proliferating cell nuclear antigen (PCNA) at stalled replication forks after a replication block [ 3 ]. TopBP1 has been established as an essential activator of ATR (ATM and RAD3-related) kinase.…”

Section: Introductionmentioning

confidence: 99%

Topoisomerase IIβ Binding Protein 1 c.*229C>T (rs115160714) Gene Polymorphism and Endometrial Cancer Risk

Forma

Wójcik‐Krowiranda

Jóźwiak

et al. 2013

Pathol. Oncol. Res.

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TopBP1 (topoisomerase IIβ binding protein 1) protein is involved in DNA replication, DNA damage checkpoint response and transcriptional regulation. In this study we investigated whether alterations in the TopBP1 gene can influence the risk of endometrial cancer. We examined the association between five single nucleotide polymorphisms (rs185903567, rs116645643, rs115160714, rs116195487, and rs112843513) located in the 3′UTR region of the TopBP1 gene and endometrial cancer risk as well as allele-specific gene expression. One hundred twenty-one endometrial cancer patients were genotyped for these SNPs. Allele-specific TopBP1 mRNA and protein expressions were determined by real time PCR and western blotting methods, respectively. Only one SNP (rs115160714) showed an association with endometrial cancer. Compared to homozygous common allele carriers, heterozygous for the T variant had significantly increased risk of endometrial cancer [adjusted odds ratio (OR) = 5.59, 95 % confidence interval (CI): 1.96–15.91, p = 0.0003]. Mean TopBP1 mRNA and protein expression were higher in the individuals with the CT genotype. There was a significant association between the rs115160714 and tumor grade and FIGO classification. Most carriers of minor allele had a high grade tumors (G3) classified as FIGO III/IV. The results of our study raise a possibility that a genetic variation of TopBP1 may be implicated in the etiology of endometrial cancer.

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TopBP1 in DNA Damage Response

Cited by 8 publications

References 121 publications

Breast Cancer and miR-SNPs: The Importance of miR Germ-Line Genetics

Breast Cancer and miR-SNPs: The Importance of miR Germ-Line Genetics

MicroRNA binding site polymorphisms as biomarkers in cancer management and research

Topoisomerase IIβ Binding Protein 1 c.*229C>T (rs115160714) Gene Polymorphism and Endometrial Cancer Risk

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