|
Adrenal Gland Pheochromocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
This clinical case suggests that individuals carrying the germline V804M mutation should be screened annually for the presence of pheochromocytoma.
|
17466010 |
2007 |
|
C-cell hyperplasia of thyroid
|
|
0.010 |
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 |
|
Columnar Cell Hyperplasia of the Breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
CCH associated with V804M RET mutation is a precancerous condition and surgery is recommended.
|
18299477 |
2008 |
|
Columnar Cell Hyperplasia of the Breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
We have correlated the presence of specific SNPs and the rare RET V804M mutation to MTC, C-cell hyperplasia (CCH), and PTC.
|
21134561 |
2010 |
|
Congenital central hypoventilation
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
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 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
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
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
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
|
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
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
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
|
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
|
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 |
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 |
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 |
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 contrast, V804M was a de novo mutation, that has been reported in patients with familial medullary thyroid carcinoma.
|
10076558 |
1999 |
|
fibroma
|
|
0.010 |
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 |
|
Hamartoma
|
|
0.010 |
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 |