Osteosarcoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
RECQL4 mutations cause several genetic disorders including Rothmund-Thomson syndrome (RTS), characterized by developmental defects and predisposition to osteosarcoma.
|
30312871 |
2018 |
Osteosarcoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RECQL4 have been linked to three diseases including Rothmund-Thomson syndrome, which is characterized by osteoskeletal deformities, photosensitivity, and increased osteosarcoma susceptibility.
|
28159839 |
2017 |
Osteosarcoma
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.
|
28338660 |
2017 |
Osteosarcoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Analysis of the signalling relationships of these genes, as well as other expression markers of osteosarcoma, indicated that gene networks linked to RB1, TP53, PI3K, PTEN/Akt, myc and RECQL4 are associated with osteosarcoma.
|
24835790 |
2014 |
Osteosarcoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations predicted to result in the loss of RECQL4 protein have been associated with osteosarcoma risk, but mutation(s)-phenotype correlations are better addressed by combined DNA and RNA analyses.
|
24518840 |
2014 |
Osteosarcoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The sensitivity of RTS cells to genotoxic agents exploiting cells with a known RECQL4 status is being elucidated and is aimed at optimizing the chemotherapeutic regimen for osteosarcoma.
|
20113479 |
2010 |
Osteosarcoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Although there was no evidence that disruption of 8q24 in OS led to an elevated expression of RECQL4, there was a marked association between increased overall levels of S-CIN, determined by copy number transition frequency and higher levels of RECQL4.
|
19242607 |
2009 |
Osteosarcoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined.
|
18716613 |
2009 |
Osteosarcoma
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined.
|
18716613 |
2009 |
Osteosarcoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with Rothmund-Thomson syndrome (RTS) and RECQL4 gene mutations have an increased risk of developing osteosarcoma (OS).
|
17264332 |
2007 |
Osteosarcoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that the RECQL4 gene is not a frequent target for somatic mutations in sporadic OS unrelated to RTS.
|
15221963 |
2004 |
Osteosarcoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The skeletal malformations in RAPADILINO and RTS patients as well as the high osteosarcoma risk in RTS propose a special role for RECQL4 in bone development.
|
12952869 |
2003 |
Osteosarcoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Kaplan-Meier survival analysis was used to estimate the incidence of osteosarcoma among patients with and without mutations predicted to produce a truncated RECQL4 protein.
|
12734318 |
2003 |
Osteosarcoma
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Twenty-three RTS patients, including all 11 osteosarcoma patients, carried at least one of 19 truncating mutations in their RECQL4 genes.
|
12734318 |
2003 |
Osteosarcoma
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|