Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 CausalMutation disease CLINVAR
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.130 Biomarker disease HPO
Entrez Id: 404663
Gene Symbol: LINC01194
LINC01194
0.010 Biomarker disease BEFREE Murine choroid plexus cell lines were produced from choroid plexus carcinoma generated in transgenic mice harboring the viral oncogene simian virus 40 large tumor antigen under transcriptional control of an intronic enhancer region from the human immunoglobulin heavy chain (IgH) gene. 8878450 1996
Entrez Id: 3492
Gene Symbol: IGH
IGH
0.010 Biomarker disease BEFREE Murine choroid plexus cell lines were produced from choroid plexus carcinoma generated in transgenic mice harboring the viral oncogene simian virus 40 large tumor antigen under transcriptional control of an intronic enhancer region from the human immunoglobulin heavy chain (IgH) gene. 8878450 1996
Entrez Id: 133
Gene Symbol: ADM
ADM
0.010 AlteredExpression disease BEFREE Northern blot analysis showed the expression of 1.6-kb adrenomedullin mRNA in the total RNA sample prepared from cultured choroid plexus carcinoma cells. 9003063 1997
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.130 GeneticVariation disease BEFREE These data indicate that constitutional mutation of the hSNF5/INI1 gene defines a new hereditary syndrome predisposing to renal or extrarenal MRT and to a variety of tumors of the CNS, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumor. 10521299 1999
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE In patient 2, normal and mutant p53 alleles were retained in both the CPC and RCC. 11494139 2001
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE We present five families of paediatric patients suffering from choroid plexus carcinoma in which we found germline TP53 mutations. 15925506 2005
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.130 AlteredExpression disease BEFREE Twenty-one CPCs showed retained expression of INI1 and seven tumors showed loss of INI1 expression. 15892296 2005
Entrez Id: 6781
Gene Symbol: STC1
STC1
0.010 Biomarker disease BEFREE Similarly, stanniocalcin-1 stained normal choroid plexus (32 of 35), choroid plexus papilloma (16 of 18), and choroid plexus carcinoma (3 of 5), whereas staining was seen in only 2 of 100 other primary brain tumors and cerebral metastases. 16330944 2006
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 18762572 2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE We present a case of a 14-year-old male with a germline TP53 mutation who presented with synchronous primitive neuroectodermal tumor and choroid plexus carcinoma. 19711436 2009
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE High-resolution single nucleotide polymorphism (SNP) array analysis revealed extremely high total structural variation (TSV) in TP53-mutated CPC tumor genomes compared with TP53 wild-type tumors and choroid plexus papillomas (CPPs; P = .006 and .004, respectively). 20308654 2010
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. 21445348 2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GermlineCausalMutation disease ORPHANET Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. 21445348 2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome. 21192060 2011
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
0.010 PosttranslationalModification disease BEFREE We discuss the ineffectiveness of adjuvant temozolomide therapy for CPC in connection with O(6)-methylguanine-DNA methyltransferase promoter methylation. 21442238 2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE Our finding suggests that TP53 somatic mutations, in addition to its germline mutations, may also be involved in the pathogenesis of pediatric CPC. 22534715 2012
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE Furthermore, association of p53 alterations with proliferative activity (Ki67/MIB1) in choroid plexus carcinoma samples (N = 20) was examined by use of immunohistochemistry. 22763759 2012
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.500 GeneticVariation disease BEFREE Of 11 patients with choroid plexus carcinoma tested for TP53 germline mutations, four (36.4%) were positive. 21990040 2012
Entrez Id: 4092
Gene Symbol: SMAD7
SMAD7
0.010 GeneticVariation disease BEFREE Robust case-pseudocontrol (CPC) conditional logistic regression analysis showed associations between CL and SNPs at CTGF (SNP rs6918698; CC genotype; OR 1.67; 95%CI 1.10-2.54; P=0.016), TGFBR2 (rs1962859; OR 1.50; 95%CI 1.12-1.99; P=0.005), SMAD2 (rs1792658; OR 1.57; 95%CI 1.04-2.38; P=0.03), SMAD7 (rs4464148; AA genotype; OR 2.80; 95%CI 1.00-7.87; P=0.05) and FLII (rs2071242; OR 1.60; 95%CI 1.14-2.24; P=0.005), and between ML and SNPs at SMAD3 (rs1465841; OR 2.15; 95%CI 1.13-4.07; P=0.018) and SMAD7 (rs2337107; TT genotype; OR 3.70; 95%CI 1.27-10.7; P=0.016). 22554650 2012
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.010 Biomarker disease BEFREE Cav1 was also detectable in immortalized human squamous epithelial, Barrett esophagus (CPC), and squamous cell carcinoma cells (OE21), but was low in BAC cell lines (OE19, OE33). 22474125 2012
Entrez Id: 57534
Gene Symbol: MIB1
MIB1
0.010 AlteredExpression disease BEFREE Furthermore, association of p53 alterations with proliferative activity (Ki67/MIB1) in choroid plexus carcinoma samples (N = 20) was examined by use of immunohistochemistry. 22763759 2012
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.010 GeneticVariation disease BEFREE Robust case-pseudocontrol (CPC) conditional logistic regression analysis showed associations between CL and SNPs at CTGF (SNP rs6918698; CC genotype; OR 1.67; 95%CI 1.10-2.54; P=0.016), TGFBR2 (rs1962859; OR 1.50; 95%CI 1.12-1.99; P=0.005), SMAD2 (rs1792658; OR 1.57; 95%CI 1.04-2.38; P=0.03), SMAD7 (rs4464148; AA genotype; OR 2.80; 95%CI 1.00-7.87; P=0.05) and FLII (rs2071242; OR 1.60; 95%CI 1.14-2.24; P=0.005), and between ML and SNPs at SMAD3 (rs1465841; OR 2.15; 95%CI 1.13-4.07; P=0.018) and SMAD7 (rs2337107; TT genotype; OR 3.70; 95%CI 1.27-10.7; P=0.016). 22554650 2012
Entrez Id: 2314
Gene Symbol: FLII
FLII
0.010 GeneticVariation disease BEFREE Robust case-pseudocontrol (CPC) conditional logistic regression analysis showed associations between CL and SNPs at CTGF (SNP rs6918698; CC genotype; OR 1.67; 95%CI 1.10-2.54; P=0.016), TGFBR2 (rs1962859; OR 1.50; 95%CI 1.12-1.99; P=0.005), SMAD2 (rs1792658; OR 1.57; 95%CI 1.04-2.38; P=0.03), SMAD7 (rs4464148; AA genotype; OR 2.80; 95%CI 1.00-7.87; P=0.05) and FLII (rs2071242; OR 1.60; 95%CI 1.14-2.24; P=0.005), and between ML and SNPs at SMAD3 (rs1465841; OR 2.15; 95%CI 1.13-4.07; P=0.018) and SMAD7 (rs2337107; TT genotype; OR 3.70; 95%CI 1.27-10.7; P=0.016). 22554650 2012