Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In human cells, there exist five RecQ DNA helicases, and mutations of three of these helicases, encoded by the BLM, WRN and RECQL4 genes, give rise to the cancer predisposition disorders, Bloom syndrome (BS), Werner syndrome (WS) and Rothmund-Thomson syndrome (RTS), respectively.
|
18719387 |
2008 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Eighteen loss-of-function variants were detected in candidate BC/OC genes in 17 patients (1 BARD1, 1 ERCC3, 1 ERCC5, 2 FANCE, 1 FANCI, 2 FANCL, 1 FANCM, 1 MCPH1, 1 PPM1D, 2 RBBP8, 3 RECQL4 and 1 with SLX4 and XRCC2), three of which also carry pathogenic variants in known cancer genes.
|
30306255 |
2018 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Of the five known human RecQ family members, three (BLM, WRN and RECQ4, which cause Bloom's syndrome, Werner's syndrome and Rothmund-Thomson syndrome respectively) are mutated in distinct clinical disorders associated with cancer predisposition and/or premature aging.
|
16246145 |
2005 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data.
|
18716613 |
2009 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
RECQL4 is associated with Rothmund-Thomson Syndrome (RTS), a rare autosomal recessive disorder characterized by premature aging, genomic instability, and cancer predisposition.
|
22296597 |
2012 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in one of the RECQ family proteins, RECQ4, not only result in developmental abnormalities and cancer predispositions, but are also linked to premature aging.
|
20096650 |
2010 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations within the gene encoding the DNA helicase RECQL4 underlie the autosomal recessive cancer-predisposition disorder Rothmund-Thomson syndrome, though it is unclear how these mutations lead to disease.
|
24960165 |
2014 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Type 2 RTS, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by increased cancer susceptibility and skeletal anomalies, whereas the genetic basis of RTS type 1, which is associated with juvenile cataracts, is unknown.
|
31303264 |
2019 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated with Rothmund-Thomson syndrome (RTS, OMIM 268400), a condition characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, cataracts and an increased risk of malignancy.
|
16630167 |
2006 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
This review summarizes some of the existing and emerging knowledge on diverse biological functions of RecQL4 and its significance as a potential molecular target for cancer therapy.
|
29080750 |
2018 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A subset of RTS patients presents mutations of the RECQL4 gene, member of the RecQ family of DNA helicases, including the RECQL2 (BLM) and RECQL3 (WRN) genes, defective in the cancer prone Bloom and Werner syndromes, respectively.
|
18616953 |
2008 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Here, we illustrate the elaborate networks of BLM, WRN, and RECQL4 in regulating HR, and the potential mechanistic linkages to cancer and aging.
|
18430459 |
2008 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
There are five RecQ homologs in mammals, and defects in three of these (BLM, WRN, and RECQL4) give rise to cancer predisposition syndromes in humans.
|
18003859 |
2007 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus, our observations provide evidence for a previously unsuspected role for Recql4 in sister-chromatid cohesion, and suggest that the chromosomal instability may be the underlying cause of cancer predisposition and birth defects in these mutant mice.
|
15703196 |
2005 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Further work is needed to define the specific and shared functions of RECQL4 in relation to other RecQ helicases and to connect RECQL4 diseases to other genomic instability syndromes with birth defects and cancer predisposition.
|
16271439 |
2006 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in RECQL4 helicase are associated with Rothmund-Thomson syndrome, which is characterized by a predisposition to cancer.
|
26906415 |
2016 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Rothmund-Thomson syndrome is a rare genodermatosis caused by biallelic mutations of the RECQL4 gene and is characterised by poikiloderma, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental abnormalities and cancer predisposition.
|
24518840 |
2014 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer.
|
31772289 |
2019 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
We propose that one or more human RecQ orthologs may act similarly in human cancers overexpressing the RecA ortholog <i>RAD51</i> and find that cancer genome expression data implicate the orthologs BLM and RECQL4 in conjunction with EME1 and GEN1 as probable HJ reducers in such cancers.
|
28090586 |
2016 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in three of the five known family members in humans, BLM, WRN and RECQL4, give rise to disorders that are characterized by predisposition to cancer and premature aging, emphasizing the importance of studying the RecQ proteins and their cellular activities.
|
17364146 |
2007 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Disease-causing mutations in three of these five human DNA helicases, BLM, WRN, and RECQL4, cause rare severe human genetic diseases with distinct clinical phenotypes characterized by developmental defects, skin abnormalities, genomic instability, and cancer susceptibility.
|
19238688 |
2008 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Although loss of RecQL4 function due to gene mutations causally linked to occurrence of human RTS with features of premature aging and cancer predisposition, our studies provide the evidence that overexpression of RecQL4 due to gene amplification play a critical role in human breast tumor progression.
|
23894508 |
2013 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Three human RecQ DNA helicases, WRN, BLM and RTS, are involved in the genetic disorders associated with genomic instability and a high incidence of cancer.
|
11032027 |
2000 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germ-line mutations in RECQL4 cause type II Rothmund-Thomson syndrome (RTS), characterized by a premature ageing phenotype and cancer predisposition.
|
26690729 |
2016 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in human RecQ4 give rise to three distinct genetic disorders (Rothmund-Thomson, RAPADILINO, and Baller-Gerold syndromes), characterized by genetic instability, growth deficiency, and predisposition to cancer.
|
27998982 |
2017 |