|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
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 |
|
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 |
|
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 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
CausalMutation
|
CLINVAR |
|
|
|
|
Familial medullary thyroid carcinoma
|
|
0.880 |
CausalMutation
|
CLINVAR |
|
|
|
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
a) <i>RET</i> genetic screening is informative in both hereditary and sporadic MTC; b) the prevalence of different mutations varies with V804M being the most frequent; c) the association genotype-phenotype is confirmed; d) by <i>RET</i> screening, some VUS can be found but their pathogenic role must be demonstrated before screening the family.
|
31510104 |
2019 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
The RET tyrosine kinase is an important therapeutic target for medullary thyroid cancer (MTC), and drug resistance mutations of RET, particularly V804M and V804L, are a main challenge for the current targeted therapy of MTC based on RET inhibitors.
|
29133048 |
2018 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
Based on penetrance analysis in carrier relatives of p.Val804Met-positive cases of MTC, p.Val804Met is currently understood to have high-lifetime penetrance for MTC (87% by age 70), albeit of later onset of MTC than other RET mutations.
|
29590403 |
2018 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in MEN 2B syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome.
|
29049491 |
2017 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.
|
23341727 |
2013 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
A SNP in exon 13 (L769L) may serve as a modifier in the development of simultaneous MTC and PTC, as well as presentation of MTC, in patients with the RET V804M mutation.
|
21134561 |
2010 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
The rearranged during transfection (RET) V804M proto-oncogene mutation is rare and associated with medullary thyroid carcinoma (MTC).
|
19958926 |
2009 |