|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Defects in DNA polymerase Eta (Polη) cause the sunlight-sensitivity and skin cancer-propensity disorder xeroderma pigmentosum variant.
|
29859927 |
2018 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, ectopic expression of USP7 promoted the UV-induced proliferating cell nuclear antigen (PCNA) monoubiquitination in Polη-proficient but not in Polη-deficient XPV (Xeroderma pigmentosum variant) cells, suggesting that USP7 facilitates UV-induced PCNA monoubiquitination by stabilizing Polη.
|
25435364 |
2015 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
XP cells were found to have defects in seven of the proteins of the nucleotide excision repair pathway and in DNA polymerase η. XP cells are hypersensitive to killing by UV radiation, and XP cancers have characteristic "UV signature" mutations.
|
22217736 |
2012 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Xeroderma pigmentosum variant: complementary molecular approaches to detect a 13 base pair deletion in the DNA polymerase eta gene.
|
21640722 |
2011 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A deficiency in DNA polymerase eta due to germ-line mutations in POLH causes the hereditary disease xeroderma pigmentosum variant (XPV), which is characterized by sunlight sensitivity and extreme predisposition to sunlight-induced skin cancer.
|
19564618 |
2009 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
DNA polymerase eta, the product of the xeroderma pigmentosum variant gene and a target of p53, modulates the DNA damage checkpoint and p53 activation.
|
16449651 |
2006 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The human skin cancer-prone disease xeroderma pigmentosum variant (XPV) results from a mutation in RAD30, which encodes the novel lesion bypass DNA polymerase eta.
|
12546696 |
2003 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Lack of DNA polymerase eta and the attendant defect in bypass replication of pyrimidine dimers induced in DNA by ultraviolet light (UV) underlie the enhanced mutagenesis and carcinogenesis observed in xeroderma pigmentosum variant (XP-V).
|
12082017 |
2002 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
The DNA polymerase eta, the absence of which gives rise to the cancer-prone xeroderma pigmentosum variant syndrome, is one of these translesion DNA polymerases.
|
12405351 |
2002 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
|
11773631 |
2002 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Domain structure, localization, and function of DNA polymerase eta, defective in xeroderma pigmentosum variant cells.
|
11157773 |
2001 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
To determine whether DNA polymerase eta plays a role in the hypermutation of immunoglobulin variable genes, we examined the frequency and pattern of substitutions in variable VH6 genes from the peripheral blood lymphocytes of three patients with xeroderma pigmentosum variant disease, whose polymerase eta had genetic defects.
|
11376341 |
2001 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Human DNA polymerase eta functions similarly in the bypass of this lesion, and mutations in human Poleta result in the cancer prone syndrome, the variant form of xeroderma pigmentosum.
|
11113193 |
2001 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta.
|
10871396 |
2000 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
[C. Masutani, M. Araki, A. Yamada, R. Kusomoto, T. Nogimori, T. Maekawa, S. Iwai, F. Hanaoka, Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity, EMBO J.18 (1999) 3491-3501.] have shown that the XPV defect can be corrected by a novel human DNA polymerase, homologue to the yeast DNA polymerase eta, which is able to replicate past cyclobutane pyrimidine dimers in DNA templates.
|
10556591 |
1999 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
|
10385124 |
1999 |
|
Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
The crucial role of DNA polymerase eta in protecting against sunlight-induced tumors is evidenced in Xeroderma Pigmentosum Variant (XP-V) patients, who carry mutations in this protein and present increased frequency of skin cancer.
|
30362123 |
2019 |
|
Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
Disrupting either the DNA annealing factor RAD52 or the A-family DNA polymerase POLQ can cause synthetic lethality with defects in BRCA1 and BRCA2, which are tumor suppressors important for homology-directed repair of DNA double-strand breaks (DSBs), and protection of stalled replication forks.
|
31381562 |
2019 |
|
Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
DNA Polymerase Eta Prevents Tumor Cell-Cycle Arrest and Cell Death during Recovery from Replication Stress.
|
30297532 |
2018 |
|
Neoplasms
|
0.090 |
AlteredExpression
|
group |
BEFREE |
Interestingly we showed that the clinically approved proteasome inhibitor, Bortezomib restores the levels of Polη(721) suggesting that this might be a therapeutic approach to preventing tumor development in certain XP-V patients harboring missense mutations.
|
25766642 |
2015 |
|
Neoplasms
|
0.090 |
AlteredExpression
|
group |
BEFREE |
Nine of these candidate genes were selected for further qRT-PCR validation and 3 of them (ALDOA, AHSA1, and POLQ) were frequently found upregulated in OSCC samples, which may indicate an association of these genes with the carcinogenesis process in this tumor site and they can constitute potential new targets for therapy.
|
22987617 |
2013 |
|
Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
Subsequent investigations showed that POLQ knockdown resulted in radiosensitization of a panel of tumor cell lines from different primary sites while having little or no effect on normal tissue cell lines.
|
20233878 |
2010 |
|
Neoplasms
|
0.090 |
AlteredExpression
|
group |
BEFREE |
We found that a significant number of tumours overexpressed POLQ and that overexpression was correlated with ER negative disease (p=0.047) and high tumour grade (p=0.004), both of which are associated with poor clinical outcomes.
|
20700469 |
2010 |
|
Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
In conclusion, this screen of DNA repair genes implicates PRKDC and POLQ as candidate tumor suppressor genes involved in breast cancer and suggests that inactivating mutations in RAD50 predispose to pancreatic cancer as well as breast cancer.
|
18281469 |
2008 |
|
Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
The XPV gene encodes DNA polymerase eta, which catalyzes an accurate translesion synthesis, indicating that the XPV gene contributes tumor suppression in normal individuals.
|
11032022 |
2000 |