×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.
19240193
2009
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.
19443294
2009
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Germline mutation of RET codon 883 in two cases of de novo MEN 2B.
9294615
1997
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation.
21186952
2011
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
7824936
1995
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
GeneticVariation
CLINVAR
RET activation by germline MEN2A and MEN2B mutations.
8570194
1995
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
GeneticVariation
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
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
GeneticVariation
CLINVAR
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
15753368
2005
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
GeneticVariation
CLINVAR
The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein.
10490816
1999
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.
9360560
1997
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
7915165
1994
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.
19826964
2009
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
20979234
2011
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
GeneticVariation
CLINVAR
Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.
11230481
2001
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
7906866
1994
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.
18976013
2008
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
9242375
1997
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Sequence analysis of germ-line DNA from MEN 2B patients revealed the existence of the same point mutation in the RET protooncogene in 34 unrelated individuals.
7906417
1994
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.
10679286
2000
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer.
20664475
2010
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
RET proto-oncogene mutations in French MEN 2A and FMTC families.
7874109
1994
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.
28323957
2017
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
External ophthalmic findings in multiple endocrine neoplasia type 2B.
15281979
2004
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
GeneticVariation
CLINVAR
Familial pediatric endocrine tumors.
21934104
2011
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Multiple Endocrine Neoplasia Type 2b
1.000
CausalMutation
CLINVAR
Medullary thyroid cancer in a 9-week-old infant with familial MEN 2B: Implications for timing of prophylactic thyroidectomy.
22992277
2012