|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
BEFREE |
The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance.
|
29656518 |
2018 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
BEFREE |
Our investigation indicated that the RET p.S891A mutation combined with OSMR p.G513D may underlie a novel phenotype manifesting as FMTC and CA.
|
26356818 |
2015 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
BEFREE |
The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.
|
24845513 |
2014 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
BEFREE |
RET mutational analysis revealed a rare missense point mutation in exon 15 of RET (A891S), associated with FMTC.
|
11849247 |
2002 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Three novel mutations in the RET proto-oncogene.
|
11692159 |
2001 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A RET double mutation in the germline of a kindred with FMTC.
|
10826520 |
2000 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
BEFREE |
A ser891ala RET proto-oncogene mutation has been previously discovered in a single kindred with familial medullary thyroid carcinoma (FMTC).
|
10024437 |
1999 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.
|
10323403 |
1999 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
|
9677065 |
1998 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma.
|
9621513 |
1998 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
|
9398735 |
1997 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.
|
9223675 |
1997 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
RET mutations in exons 13 and 14 of FMTC patients.
|
7784092 |
1995 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.
|
8625130 |
1995 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.
|
7845675 |
1995 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.
|
7849720 |
1994 |
|
rs75234356
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
|
7881414 |
1994 |