DisGeNET - a database of gene-disease associations

Adrenocortical carcinoma, C0206686

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs876660754

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs876660754

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs866775781

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs864622237

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs864622237

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs863224451

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs863224451

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs786205050

CACNA1H

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

dbSNP:

rs786201057

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs786201057

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs763868966

GFAP

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

dbSNP:

rs751477326

TP53

0.010

GeneticVariation

BEFREE

Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker.

20421238

2010

dbSNP:

rs747342068

TP53

0.710

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs747342068

TP53

0.710

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

dbSNP:

rs747342068

TP53

0.710

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs730882029

TP53

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

dbSNP:

rs6471

CYP21A2

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

dbSNP:

rs63749993

MSH2

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

dbSNP:

rs587782529

TP53

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

dbSNP:

rs587781991

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587781991

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587780073

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587780073

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587778720

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587778720

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016