|
Pheochromocytoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
In this study, we report new, unrelated Brazilian individuals with germline RET Y791F-only: two tumour-free elderly controls; two individuals with sporadic MTC whose Y791F-carrying relatives did not show any evidence of tumours; and a 74-year-old phaeochromocytoma patient without MTC.
|
25425582 |
2015 |
|
Pheochromocytoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
The overall penetrance of MTC and pheochromocytoma in patients with the p.C634Y/p.Y791F mutations was 79% and 13%, respectively.
|
23723040 |
2013 |
|
Pheochromocytoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
Our data suggest that the natural history of the novel C634Y/Y791F double mutation carries a codon 634-like pattern of medullary thyroid carcinoma development, is associated with increased susceptibility to unusually large bilateral pheochromocytomas, and is likely more biologically active than each individual mutation.
|
20080836 |
2010 |
|
Pheochromocytoma
|
|
0.830 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Pheochromocytoma
|
|
0.830 |
CausalMutation
|
CLINVAR |
|
|
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
BEFREE |
Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.
|
23723040 |
2013 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
In this study, we have shown that familial medullary thyroid carcinoma (FMTC) mutants RET(Y791F) and RET(S891A) induced, in addition to Tyr(705) phosphorylation, constitutive STAT3 Ser(727) phosphorylation.
|
17209045 |
2007 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
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 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Three novel mutations in the RET proto-oncogene.
|
11692159 |
2001 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A RET double mutation in the germline of a kindred with FMTC.
|
10826520 |
2000 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.
|
10323403 |
1999 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.
|
10522989 |
1999 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.
|
9506724 |
1998 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A.
|
9452064 |
1998 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma.
|
9621513 |
1998 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.
|
9452077 |
1998 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
|
9677065 |
1998 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
|
9398735 |
1997 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A.
|
9097963 |
1997 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.
|
9223675 |
1997 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
|
9259198 |
1997 |
|
Familial medullary thyroid carcinoma
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.
|
8557249 |
1996 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
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 |
|
Familial medullary thyroid carcinoma
|
|
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 |