Genetic variation in DNA repair gene XRCC7 (G6721T) and susceptibility to breast cancer

Nasiri, Mahdi; Saadat, Iraj; Omidvari, Shapour; Saadat, Mostafa

doi:10.1016/j.gene.2012.04.065

Cited by 16 publications

(11 citation statements)

References 18 publications

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“…A few association studies have been published which investigated the relationship between XRCC7 G6721T polymorphism and risk of cancers (such as bladder cancer, prostate cancer and renal cell carcinoma) [5][6][7][8][9][10][11][12][13][14]. The majority of these studies found no association between this polymorphism and risk of cancers, which is very similar to our finding.…”

Section: Resultssupporting

confidence: 90%

“…Although NHEJ is the major pathway for DSB repair in human cells and acts during all phases of the cell cycle [1], only a few studies have been reported on the association between G6721T polymorphism of the XRCC7 gene and risk of multifactorial traits including, several types of cancers. However the results were not consistent [5][6][7][8][9][10][11][12][13][14][15][16][17].…”

Section: Introductionmentioning

confidence: 82%

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DNA repair gene XRCC7 G6721T variant and susceptibility to colorectal cancer

Saadat

Rabizadeh-Hafshenjani

2016

Egyptian Journal of Medical Human Genetics

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Background: The human XRCC7 (MIM: 600899) is a DNA double-strand break repair gene, involved in non-homologous end joining (NHEJ). Polymorphism G6721T (rs7003908) is located in the intron 8 of the XRCC7. This polymorphism may regulate splicing and cause mRNA instability.Aim: The aim of the present study was to determine an association of G6721T XRCC7 polymorphism in colorectal cancer.Subjects and methods: The study included 166 patients with colorectal cancer and 260 age and gender frequency-matched controls. The patients and controls were Iranian (Caucasian/Muslims).Results: Our data did not demonstrate any statistically significant association between the genotypes of XRCC7 G6721T polymorphism and risk of colorectal cancer. There was a significant association between family history of cancers among their first-degree relatives (FH) and risk of colorectal cancer (OR = 3.69, 95% CI: 2.19-6.23, P < 0.001). We further analyzed to see if the FH influenced the association of the XRCC7 G6721T polymorphism and colorectal cancer risk. The TT genotype among positive FH persons, remarkably increased the risk of colorectal cancer (OR = 6.88, 95% CI: 2.27-20.8, P = 0.001).Conclusion: The present study suggests the TT genotype of the XRCC7 G6721T polymorphism might be a risk factor for the development of colorectal cancer among persons with positive FH. Ó 2016 Ain Shams University. Production and hosting by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

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Section: Resultssupporting

confidence: 90%

Section: Introductionmentioning

confidence: 82%

DNA repair gene XRCC7 G6721T variant and susceptibility to colorectal cancer

Saadat

Rabizadeh-Hafshenjani

2016

Egyptian Journal of Medical Human Genetics

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“…PRKDC and XRCC6 play an important role in the suppression of chromosomal rearrangements and in the maintenance of genome integrity, along with a significant function in the recognition and repair of double strand breaks 70 . Therefore, their roles were studied in various cancers, such as breast 71,72 , glioma 73 , renal 74 , hepatocellular 75,76 , digestive 77 , bladder 78 and lung 70 cancer. www.nature.com/scientificreports www.nature.com/scientificreports/ On the other hand, Ku complex is known to interact with RECQL4 and to form a macromolecular assembly promoting NHEJ.…”

Section: Discussionmentioning

confidence: 99%

Architecture of The Human Ape1 Interactome Defines Novel Cancers Signatures

Ayyildiz

Antoniali

D’Ambrosio

et al. 2020

Sci Rep

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APE1 is essential in cancer cells due to its central role in the Base Excision Repair pathway of DNA lesions and in the transcriptional regulation of genes involved in tumor progression/chemoresistance. Indeed, APE1 overexpression correlates with chemoresistance in more aggressive cancers, and APE1 protein-protein interactions (PPIs) specifically modulate different protein functions in cancer cells. Although important, a detailed investigation on the nature and function of protein interactors regulating APE1 role in tumor progression and chemoresistance is still lacking. The present work was aimed at analyzing the APE1-PPI network with the goal of defining bad prognosis signatures through systematic bioinformatics analysis. By using a well-characterized HeLa cell model stably expressing a flagged APE1 form, which was subjected to extensive proteomics analyses for immunocaptured complexes from different subcellular compartments, we here demonstrate that APE1 is a central hub connecting different subnetworks largely composed of proteins belonging to cancer-associated communities and/or involved in RNA-and DNA-metabolism. When we performed survival analysis in real cancer datasets, we observed that more than 80% of these APE1-PPI network elements is associated with bad prognosis. Our findings, which are hypothesis generating, strongly support the possibility to infer APE1-interactomic signatures associated with bad prognosis of different cancers; they will be of general interest for the future definition of novel predictive disease biomarkers. Future studies will be needed to assess the function of APE1 in the protein complexes we discovered. Data are available via ProteomeXchange with identifier PXD013368.Alteration of DNA repair mechanisms is an important hallmark of cancer cells, and plays a role both in the onset of an initial cancerous phenotype and in tumor progression. Tumor cells can develop drug resistance through repair mechanisms that counteract the DNA damage induced by chemotherapy or radiotherapy 1,2 . Thus, specific DNA repair inhibitors are often combined with DNA-damaging agents to improve therapy efficacy. Emerging evidences in tumor biology suggest that: i) protein-protein interactions (PPIs) specifically modulate both canonical and non-canonical roles of DNA repair enzymes; ii) RNA processing pathways participate in DNA-Damage Response (DDR); iii) defects in the above-mentioned regulatory mechanisms are associated with cancer genomic instability 3 . Very recent studies clearly show that many DNA repair proteins are associated with those involved in RNA metabolism, proving a role of their interactome network in undertaking non-canonical functions affecting gene expression in tumors. In addition, novel studies have shown that interaction of DDR components and miRNA biogenesis process is linked to cancer development 2 . In the context of these emerging lines, we already demonstrated the crucial role that enzymes belonging to the base excision DNA repair (BER) pathway play 4 . In particular, we showe...

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“…Furthermore, previous investigations showed that breast cancer was a multiple gene-related disease (González-Neira, 2012;Justenhoven et al, 2012) and many gene polymorphisms were found to be associated with breast cancer risk (Nasiri et al, 2012;Wu et al, 2012;Yaren et al, 2012). However, although it was reported recently that genetic variation in HRH4 contributed to the pathogenesis of certain diseases, such as atopic dermatitis (Yu et al, 2010), the knowledge of the clinical relevance between breast cancer and polymorphisms of HRH4 genes, which probably result in expression and functional change of HRH4, is still limited.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of human histamine receptor H4 gene are associated with breast cancer in Chinese Han population

Shi

et al. 2013

Gene

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Genetic variation in DNA repair gene XRCC7 (G6721T) and susceptibility to breast cancer

Cited by 16 publications

References 18 publications

DNA repair gene XRCC7 G6721T variant and susceptibility to colorectal cancer

DNA repair gene XRCC7 G6721T variant and susceptibility to colorectal cancer

Architecture of The Human Ape1 Interactome Defines Novel Cancers Signatures

Polymorphisms of human histamine receptor H4 gene are associated with breast cancer in Chinese Han population

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