|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
CausalMutation
|
CLINVAR |
Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.
|
28323957 |
2017 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
CausalMutation
|
CLINVAR |
We present the clinical data for a family with MEN-2B associated with RET-A883F mutation.
|
21186952 |
2011 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
GeneticVariation
|
BEFREE |
A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation.
|
21186952 |
2011 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
CausalMutation
|
CLINVAR |
External ophthalmic findings in multiple endocrine neoplasia type 2B.
|
15281979 |
2004 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
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 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.
|
9360560 |
1997 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
CausalMutation
|
CLINVAR |
Germline mutation of RET codon 883 in two cases of de novo MEN 2B.
|
9294615 |
1997 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline mutation of RET codon 883 in two cases of de novo MEN 2B.
|
9294615 |
1997 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.
|
8807338 |
1996 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B.
|
8595427 |
1995 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.
|
7906417 |
1994 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
|
7906866 |
1994 |
|
Multiple Endocrine Neoplasia Type 2b
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.
|
7911697 |
1994 |
|
Medullary carcinoma of thyroid
|
|
0.720 |
GeneticVariation
|
BEFREE |
MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers.
|
28323957 |
2017 |
|
Medullary carcinoma of thyroid
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Medullary carcinoma of thyroid
|
|
0.720 |
GeneticVariation
|
BEFREE |
A family with MEN-2B due to RET-A883F mutation displayed a less aggressive form of MTC than what is usually seen in patients with RET-M918T mutation.
|
21186952 |
2011 |
|
Medullary carcinoma of thyroid
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors.
|
15184865 |
2004 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.700 |
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 |
|
Multiple Endocrine Neoplasia, Type IV
|
|
0.700 |
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 |
|
Multiple Endocrine Neoplasia Type 1
|
|
0.700 |
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 |
|
Familial medullary thyroid carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers.
|
28323957 |
2017 |
|
Familial medullary thyroid carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Interestingly, the level of transforming activity correlated with clinical phenotypes; high group Ret with the A883F or M918T mutation and low group Ret with the E768D, V804L or S891A mutation were associated with the development of MEN 2B and FMTC, respectively.
|
10445857 |
1999 |
|
Multiple Endocrine Neoplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B.
|
28323957 |
2017 |