DisGeNET - a database of gene-disease associations

Pheochromocytoma, C0031511

Gene: RET ×

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:

rs74799832

RET

0.740

GeneticVariation

BEFREE

Eight patients (21%) developed PHEO in the course of follow-up to date, all of whom were sporadic cases with the classic M918T RET mutation.

30113649

2019

dbSNP:

rs74799832

RET

0.740

GeneticVariation

BEFREE

Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically associated with multiple endocrine neoplasia type 2B (MEN 2B) with highly aggressive medullary thyroid cancer (MTC), pheochromocytoma and a unique phenotype.

27807060

2016

dbSNP:

rs74799832

RET

0.740

GeneticVariation

BEFREE

One patient having a mutation in exon 16 (Met918Thr) presented with the MEN2B phenotype, six patients from two families had hereditary MTC without pheochromocytoma (pheo) and primary hyperparathyroidism (PHPT), whereas 33 patients from 15 families showed the MEN2A phenotype.

16865647

2006

dbSNP:

rs74799832

RET

0.740

GeneticVariation

BEFREE

A single RET mutation, resulting in the substitution M918T, has been identified in 94% of cases of MEN 2B (which consists of MTC, pheochromocytoma and developmental abnormalities).

9294615

1997

dbSNP:

rs74799832

RET

0.740

CausalMutation

CLINVAR

dbSNP:

rs76262710

RET

0.720

GeneticVariation

BEFREE

The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A.

15858153

2005

dbSNP:

rs76262710

RET

0.720

GeneticVariation

BEFREE

In this report, we show that Cys 618 Arg mutation cosegregates with familial MTC and HSCR in two Moroccan Jewish families in which no involvement of pheochromocytoma or parathyroidism was observed.

9259198

1997

dbSNP:

rs76262710

RET

0.720

CausalMutation

CLINVAR

dbSNP:

rs79658334

RET

0.710

GeneticVariation

BEFREE

This clinical case suggests that individuals carrying the germline V804M mutation should be screened annually for the presence of pheochromocytoma.

17466010

2007

dbSNP:

rs79658334

RET

0.710

CausalMutation

CLINVAR

dbSNP:

rs377767412

RET

0.700

GeneticVariation

CLINVAR

dbSNP:

rs377767406

RET

0.030

GeneticVariation

BEFREE

Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas.

28747092

2017

dbSNP:

rs377767406

RET

0.030

GeneticVariation

BEFREE

Patients with a D631Y RET mutation typically present with pheochromocytoma and medullary thyroid carcinoma appears to occur with a later onset than reported with other RET mutations.

22274720

2012

dbSNP:

rs77558292

RET

0.030

GeneticVariation

BEFREE

In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism.

22584703

2012

dbSNP:

rs77939446

RET

0.030

GeneticVariation

BEFREE

22584703

2012

dbSNP:

rs77558292

RET

0.030

GeneticVariation

BEFREE

In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.

19475497

2009

dbSNP:

rs77939446

RET

0.030

GeneticVariation

BEFREE

19475497

2009

dbSNP:

rs377767406

RET

0.030

GeneticVariation

BEFREE

In addition, pheochromocytoma might be the first manifestation prior to the development of MTC in some patients with the D631Y mutation.

16839264

2006

dbSNP:

rs77558292

RET

0.030

GeneticVariation

BEFREE

Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.

16343103

2005

dbSNP:

rs77939446

RET

0.030

GeneticVariation

BEFREE

Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.

16343103

2005

dbSNP:

rs146646971

RET

0.020

GeneticVariation

BEFREE

Here we report a case of a homozygous RET K666N mutation leading to coincident MTC and PHEO.

29408964

2018

dbSNP:

rs1799939

RET

0.020

GeneticVariation

BEFREE

The findings propose a classification of 15 of the 26 VUS in RET without any well-defined risk profiles and suggest that the G691S SNP, or a combination of SNPs, may be associated with the development of PHEO.

28946813

2017

dbSNP:

rs146646971

RET

0.020

GeneticVariation

BEFREE

None of the K666N DNA variant carriers had evidence of primary hyperparathyroidism or pheochromocytoma.

27673361

2016

dbSNP:

rs1799939

RET

0.020

GeneticVariation

BEFREE

We did not observe any association between the frequencies of L769L, S836S, or S904S/G691S variants and PHEO development (all P>0.05).

24616415

2014

dbSNP:

rs75234356

RET

0.020

GeneticVariation

BEFREE

Our report suggests that cases with S891A mutation, akin to those with other RET mutations, require screening for pheochromocytoma.

24449023

2014