DisGeNET - a database of gene-disease associations

Thyroid Neoplasm, C0040136

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

0.720

GeneticVariation

BEFREE

In the present study, we investigated whether the oncogenic RET mutants RET2A (C634R) and RET2B (M918T) were regulated by LRIG1, and the possible effects of LRIG1 expression in thyroid cancer were investigated in three different clinical cohorts and in a RET2B-driven mouse model of MTC.

29436694

2018

dbSNP:

rs11554290

NRAS

0.720

GeneticVariation

BEFREE

These data indicate the reliability of IHC to identify N-RAS Q61R mutated thyroid neoplasia and suggest to adopt this approach for a more accurate management of patients, when indicated.

28064410

2017

dbSNP:

rs11554290

NRAS

0.720

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs11554290

NRAS

0.720

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs11554290

NRAS

0.720

GeneticVariation

BEFREE

In conclusion, NRAS(Q61R) IHC is a highly sensitive and specific tool that is useful for differentiating follicular-patterned thyroid tumors.

26980032

2016

dbSNP:

rs74799832

RET

0.720

GeneticVariation

BEFREE

In present result, RET rs1799939, rs1800858 and rs74799832 polymorphisms might be the risk factors for TC.

26191299

2015

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a randomized, double-blind phase III trial.

22025146

2012

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

Thyroid cancer cell lines harboring RET/PTC1 (TPC-1), RET M918T (MZ-CRC1) and RET C634W (TT) alterations, as well as TPC-1 xenografts, were treated with JAK inhibitor, AZD1480.

23056499

2012

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

Targeted therapies for thyroid tumors.

21455200

2011

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells.

21470995

2011

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

Phase II study of daily sunitinib in FDG-PET-positive, iodine-refractory differentiated thyroid cancer and metastatic medullary carcinoma of the thyroid with functional imaging correlation.

20847059

2010

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer.

20065189

2010

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

Phase II clinical trial of sorafenib in metastatic medullary thyroid cancer.

20368568

2010

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

Phase II trial of sorafenib in metastatic thyroid cancer.

19255327

2009

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

Phase II trial of sorafenib in advanced thyroid cancer.

18541894

2008

dbSNP:

rs74799832

RET

0.720

CausalMutation

CLINVAR

Molecular biology of the MEN2 gene.

9681850

1998

dbSNP:

rs121913364

BRAF

0.710

GeneticVariation

BEFREE

Histopathologic and Clinical Characterization of Thyroid Tumors Carrying the BRAF(K601E) Mutation.

26422023

2016

dbSNP:

rs121913364

BRAF

0.710

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs104894228

HRAS ; LRRC56

0.710

GeneticVariation

BEFREE

Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation.

26265449

2015

dbSNP:

rs104894228

HRAS ; LRRC56

0.710

CausalMutation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs104894228

HRAS ; LRRC56

0.710

CausalMutation

CLINVAR

Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer.

23406027

2013

dbSNP:

rs104894228

HRAS ; LRRC56

0.710

CausalMutation

CLINVAR

Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer.

23406027

2013

dbSNP:

rs104894228

HRAS ; LRRC56

0.710

CausalMutation

CLINVAR

Phase II trial of sorafenib in metastatic thyroid cancer.

19255327

2009

dbSNP:

rs104894228

HRAS ; LRRC56

0.710

CausalMutation

CLINVAR

Phase II trial of sorafenib in metastatic thyroid cancer.

19255327

2009

dbSNP:

rs104894228

HRAS ; LRRC56

0.710

CausalMutation

CLINVAR

Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma.

19773371

2009