RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE While reduced RecQ4 activity is associated with cancer predisposition and premature aging, RecQ4 upregulation is related to carcinogenesis and metastasis. 28653661 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE In the past several years, accumulated evidence indicates that RECQL4 is important not only in cancer development but also in the aging process. 27287744 2017
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE This is in accordance with clinical and epidemiological findings demonstrating that defects in three RecQL helicases, i.e., WRN, BLM, RECQL4, are related to human progeroid and cancer predisposition syndromes, i.e., Werner, Bloom, and Rothmund Thomson syndrome, respectively. 25555679 2015
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Germline mutations in RECQL4 and p53 lead to cancer predisposition syndromes, Rothmund-Thomson syndrome (RTS) and Li-Fraumeni syndrome (LFS), respectively. 24067899 2014
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Genetic defects in three of the five human RecQ helicases, BLM, WRN and RECQ4, give rise to defined syndromes associated with cancer predisposition, some features of premature ageing and chromosomal instability. 19657341 2009
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C0006826
Disease: Malignant Neoplasms
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