|
rs79658334
|
|
|
0.880 |
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 |
|
rs79658334
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Characterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family.
|
25501606 |
2015 |
|
rs79658334
|
|
|
0.880 |
GeneticVariation |
BEFREE |
PHPT was present in one patient with mutation in exon 14 (Val804Met), whereas all other patients affected with mutations in exon 14 had hereditary MTC without PHPT and/or pheos.
|
16865647 |
2006 |
|
rs79658334
|
|
|
0.880 |
GeneticVariation |
BEFREE |
In this study we report the segregation of a germline V804L mutation and a germline sequence variant S836S in exon 14 of the RET gene in an extended Hungarian FMTC kindred comprising 80 individuals of four generations.
|
12694233 |
2003 |
|
rs79658334
|
|
|
0.880 |
GeneticVariation |
BEFREE |
V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers.
|
12019403 |
2002 |
|
rs79658334
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation.
|
10876191 |
2000 |
|
rs79658334
|
|
|
0.880 |
GeneticVariation |
BEFREE |
In contrast, V804M was a de novo mutation, that has been reported in patients with familial medullary thyroid carcinoma.
|
10076558 |
1999 |
|
rs79658334
|
|
|
0.880 |
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
|
|
|
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 |
|
rs76262710
|
|
|
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 |
|
rs76262710
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The mean age at MTC diagnosis of patients carrying p.Cys618Arg was 36.8 ± 14.2 years.
|
29396759 |
2018 |
|
rs75234356
|
|
|
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
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.
|
24845513 |
2014 |
|
rs76262710
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.
|
22068382 |
2012 |
|
rs76262710
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Mutational screening of the RET gene identified a common mutation (C618R) in all 8 (7 FMTC and 1 MEN2A) unrelated Cypriot patients which may be explained by a founder effect.
|
21422799 |
2011 |
|
rs76262710
|
|
|
0.870 |
GeneticVariation |
BEFREE |
A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation.
|
20119574 |
2010 |
|
rs75234356
|
|
|
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 |
|
rs76262710
|
|
|
0.870 |
GeneticVariation |
BEFREE |
By using ARMS, two members of the MEN2A family and five members of the FMTC family were also found positive for the C618R mutation.
|
15345114 |
2004 |
|
rs75234356
|
|
|
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
|
|
|
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
|
|
|
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 |
|
rs76262710
|
|
|
0.870 |
GeneticVariation |
BEFREE |
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 |
|
rs75030001
|
|
|
0.830 |
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 |
|
rs78014899
|
|
|
0.830 |
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 |
|
rs79781594
|
|
|
0.830 |
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 |