DisGeNET - a database of gene-disease associations

Medullary carcinoma of thyroid, C0238462

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:

rs79658334

RET

0.800

GeneticVariation

BEFREE

The patient is one of the few with a V804M mutation in whom the clinical expression did not fully conform to the definition of familial MTC.

19445625

2009

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

Until the end of the study, at a median age of 16.2 (range, 0.5-34.9 years), all 25 M918T RET carriers had developed medullary thyroid cancer.

19041016

2008

dbSNP:

rs74799832

RET

0.800

GeneticVariation

CLINVAR

Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study.

18073307

2008

dbSNP:

rs79658334

RET

0.800

GeneticVariation

BEFREE

RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but variably penetrant defect found in both sporadic and MEN2A-associated MTC/CCH, and a p.G691S polymorphism in exon 11.

18299477

2008

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is associated with early-onset medullary thyroid carcinoma (MTC).

17848262

2007

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

No RET mutations were found in any of the 24 CCH cases, whereas M918T mutation was detected in three concomitant MTCs.

17384213

2007

dbSNP:

rs75076352

RET

0.800

GeneticVariation

BEFREE

We have established a transplantable MTC in nude mice from a sporadic human MTC carrying a RET C634R mutation.

17639056

2007

dbSNP:

rs74799832

RET

0.800

CausalMutation

CLINVAR

Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B.

17108110

2006

dbSNP:

rs75076352

RET

0.800

GeneticVariation

BEFREE

Genetic analysis of both tumour components showed a distinctive mutational pattern: in the MTC a Cys634Arg substitution in exon 11 of the RET gene and in the two PTC foci a Val600Glu substitution in exon 15 of the BRAF gene.

15947103

2005

dbSNP:

rs75076352

RET

0.800

GeneticVariation

BEFREE

Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed.

16053382

2005

dbSNP:

rs74799832

RET

0.800

CausalMutation

CLINVAR

We tested on thyroid follicular cells the transforming activity of RET(C634S), RET(K603Q), another mutant identified in a kindred with both PTC and MTC, RET(C634R) a commonly isolated allele in MEN2A, RET(M918T) responsible for MEN2B and also identified in kindreds with both PTC and MTC, and RET/PTC1 the rearranged oncogene that characterizes bona fide PTC in patients without MTC.

15277225

2004

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

15277225

2004

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

In multiple endocrine neoplasia 2B (MEN-2B) patients expressing RET(M918T), nuclear enrichment of STAT3 and elevated expression of CXCR4 was detected in metastatic thyroid C-cell carcinoma in the liver.

15485908

2004

dbSNP:

rs75076352

RET

0.800

GeneticVariation

CLINVAR

Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors.

15184865

2004

dbSNP:

rs75076352

RET

0.800

GeneticVariation

BEFREE

15277225

2004

dbSNP:

rs79658334

RET

0.800

GeneticVariation

BEFREE

Indeed, the carrier of the V804M mutation associated with L769L polymorphism presented MTC at 32 years of age, in contrast to her asymptomatic mother, who had only the V804M mutation and had MTC diagnosed by fine-needle aspiration biopsy at 60 years of age.

15588382

2004

dbSNP:

rs79658334

RET

0.800

GeneticVariation

BEFREE

None of the other family members carrying the V804L mutation and/or the S836S polymorphism had clinical or biochemical evidence of MTC.

12694233

2003

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

Interestingly, concomitant somatic M918T was detected in a 12-yr-old girl with MTC and was likely to be responsible for both the early clinical appearance and the aggressiveness of the disease.

11932300

2002

dbSNP:

rs75076352

RET

0.800

GeneticVariation

BEFREE

Family 2 showed the C634R mutation only in the index case, who presented with cutaneous lichen amyloidosis in addition to MTC, pheochromocytoma and hyperparathyroidism.

11987030

2002

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

A previous report suggested that the presence of a germline variant at RET codon 836 (S836S) was associated with the development of sporadic MTC and, furthermore, that the presence of S836S was highly correlated with somatic RET M918T mutation in the MTC.

11589684

2001

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

These MTCs also harbored the somatic RET M918T mutation and also showed the highest numbers of CGH alterations in the series (p<0.003).

11351254

2001

dbSNP:

rs74799832

RET

0.800

GeneticVariation

CLINVAR

These MTCs also harbored the somatic RET M918T mutation and also showed the highest numbers of CGH alterations in the series (p<0.003).

11351254

2001

dbSNP:

rs74799832

RET

0.800

CausalMutation

CLINVAR

Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.

10445857

1999

dbSNP:

rs74799832

RET

0.800

GeneticVariation

BEFREE

Small MTC in C634R may be less aggressive than those in C634Y and M918T.

9839497

1998

dbSNP: