rs786205050
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We heterologously expressed empty vector, CACNA1H(WT) and CACNA1H(M1549V) in the aldosterone-producing adrenocortical cancer cell line H295R and its subclone HAC15.
|
27258646 |
2016 |
rs763868966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the assembled GFAP p.(E312*)</span> aggregated into paracrystal-like structures, and GFAP p.(E312*) elicited more GFAP aggregation than wild-type GFAP in the human adrenal cortex carcinoma SW13 (Vim(+)) cells.
|
24755947 |
2015 |
rs63749993
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS.
|
21225464 |
2011 |
rs751477326
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker.
|
20421238 |
2010 |
rs375338359
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries.
|
19714490 |
2009 |
rs587782529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma.
|
19714490 |
2009 |
rs730882029
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries.
|
19714490 |
2009 |
rs1060501205
|
|
|
0.010 |
GeneticVariation |
BEFREE |
She was found to have a base pair change (A-->C) at nucleotide 394 resulting in a lysine to glutamine amino acid change at codon 132 (K132Q), which remarkably has never been described in association with either adrenocortical carcinoma or osteosarcoma.
|
18989156 |
2008 |
rs121912667
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma.
|
18762572 |
2008 |
rs28934578
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified a novel germ line variant of the 175 mutant (Arg to Leu; R175L) in a pediatric patient who developed adrenal cortical carcinoma.
|
16707427 |
2006 |
rs6471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We detected heterozygous germline mutations (exon 7, Val 281Leu) in two patients, one with a cortisol-producing adenoma and the other with an androgen-secreting adrenocortical carcinoma.
|
9661649 |
1998 |
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis.
|
27663983 |
2016 |
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Screening for the p.R337H mutation identified 11 carriers (3.7%), 9 of whom were diagnosed with adrenocortical carcinomas (ACC) and 2 of whom were diagnosed with choroid plexus carcinomas.
|
24122735 |
2013 |
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
R337H has been identified in Brazilian families with Li-Fraumeni or related syndromes predisposing to cancers in childhood (ie, brain, renal, and adrenocortical carcinomas), adolescence (ie, soft tissue and bone sarcomas), and young adulthood (ie, breast cancer).
|
19717094 |
2009 |
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Families with the R337H mutation presented a wide spectrum of tumours, including breast cancers (30.4%), brain cancers (10.7%), soft tissue sarcomas (10.7%) and adrenocortical carcinomas (8.9%).
|
16494995 |
2007 |
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The TP53 R337H mutation dramatically increases predisposition to childhood ACT but not to other cancers, and explains the increased frequency of ACT observed in this geographic region.
|
16033918 |
2006 |
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Recently, a characteristic TP53 mutation at codon 337 (R337H) has been identified in the germline of children with adrenocortical carcinoma in Southern Brazil.
|
15878142 |
2005 |
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The tetramerization domain for wild-type p53 (p53tet-wt) and a p53 mutant, R337H (p53tet-R337H), associated with adrenocortical carcinoma (ACC) in children, can be converted from the soluble native state to amyloid-like fibrils under certain conditions.
|
12634062 |
2003 |
rs1057519747
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs1057519747
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs1057519902
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs1057519932
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs1057519975
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs1057519983
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs1057519996
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |