|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in HIF2A have been reported in PPGLs associated with polycythemia, which have been reported to also be present in patients with RCCs and HBs.
|
26514359 |
2016 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Effect of radiation and ibuprofen on normoxic renal carcinoma cells overexpressing hypoxia-inducible factors by loss of von Hippel-Lindau tumor suppressor gene function.
|
15217953 |
2004 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PHGDH as a Key Enzyme for Serine Biosynthesis in HIF2α-Targeting Therapy for Renal Cell Carcinoma.
|
28951458 |
2017 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1).
|
31231134 |
2019 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Sex specific associations in genome wide association analysis of renal cell carcinoma.
|
31231134 |
2019 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.
|
29172931 |
2017 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.
|
22010048 |
2012 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1.
|
22113997 |
2012 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASDB |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The authors observed evidence of interactions between PhIP and RCC susceptibility variants in 2 genes: inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) (rs718314; multiplicative P for interaction = .03 and additive P for interaction =.002) and endothelial PAS domain-containing protein 1 (EPAS1) (rs7579899; additive P for interaction =.06).
|
26551148 |
2016 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
|
28598434 |
2017 |
|
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer.
|
25826619 |
2015 |
|
Erythrocytosis, Familial, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
|
18184961 |
2008 |
|
Erythrocytosis, Familial, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two new mutations in the HIF2A gene associated with erythrocytosis.
|
22367913 |
2012 |
|
Erythrocytosis, Familial, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
|
19208626 |
2009 |
|
Erythrocytosis, Familial, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
|
18378852 |
2008 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Through sequencing of the HIF2A using DNA from paraganglioma in 15-year-old male patient, we identified a novel mutation of HIF2A: a heterozygous C to A substitution at base 1589 in exon 12 of HIF2A.
|
24819565 |
2014 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we report two novel somatic gain-of-function mutations in the gene encoding hypoxia-inducible factor 2α (HIF2A) in two patients, one presenting with paraganglioma and the other with paraganglioma and somatostatinoma, both of whom had polycythemia.
|
22931260 |
2012 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.
|
23090011 |
2013 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
About 60% of Pheochromocytoma (PCC) and Paraganglioma (PGL) patients have either germline or somatic mutations in one of the 12 proposed disease causing genes; SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS.
|
24466223 |
2014 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The HIF2α mutation-induced polycythemia with PCC/PGL is a rare syndrome with no treatment for cure.
|
28116635 |
2017 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent data suggest that both clusters are interconnected via the HIF signaling and its role in tumorigenesis is supported by newly described somatic and germline mutations in HIF2A gene in patients with PHEOs/PGLs associated with polycythemia, and in some of them also with somatostatinoma.
|
24908231 |
2014 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Somatic HIF2A mutations (p.A530V, p.P531S, and p.D539N) were identified in DNA extracted from PGLs of 3 patients.
|
30644531 |
2019 |