rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
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
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.880
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.880
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.880
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
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
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.880
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.880
GeneticVariation
UNIPROT
Clinical utility gene card for: multiple endocrine neoplasia type 2.
21863057
2012
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.880
GeneticVariation
UNIPROT
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
19469690
2009
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
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
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
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
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
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
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.880
GeneticVariation
UNIPROT
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
11739416
2001
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.880
GeneticVariation
BEFREE
Variable expressivity of familial medullary thyroid carcinoma (FMTC ) due to a RET V804M (GTG-->ATG) mutation.
10876191
2000
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
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
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
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
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.880
GeneticVariation
UNIPROT
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
8918855
1996
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
A
0.880
CausalMutation
CLINVAR
rs79658334
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
T
0.880
CausalMutation
CLINVAR
rs75234356
×
Entrez Id:
5979
Gene Symbol:
RET
RET
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
rs76262710
×
Entrez Id:
5979
Gene Symbol:
RET
RET
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
rs76262710
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.870
GeneticVariation
BEFREE
The mean age at MTC diagnosis of patients carrying p.Cys618Arg was 36.8 ± 14.2 years.
29396759
2018
rs76262710
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.870
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs75234356
×
Entrez Id:
5979
Gene Symbol:
RET
RET
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
rs76262710
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.870
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs76262710
×
Entrez Id:
5979
Gene Symbol:
RET
RET
Familial medullary thyroid carcinoma
0.870
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015