|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Three novel mutations in the RET proto-oncogene.
|
11692159 |
2001 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A RET double mutation in the germline of a kindred with FMTC.
|
10826520 |
2000 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.
|
10323403 |
1999 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
|
9677065 |
1998 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma.
|
9621513 |
1998 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
|
9398735 |
1997 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.
|
9223675 |
1997 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.
|
8625130 |
1995 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
UNIPROT |
RET mutations in exons 13 and 14 of FMTC patients.
|
7784092 |
1995 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
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 |
|
rs75996173
|
|
Familial medullary thyroid carcinoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
We have identified a mutation in codon 620, 2053 T-->C (Cys620Arg), and two mutations in codon 634 of exon 11 of RET, 2095 T-->C (Cys634Arg) and 2096 G-->A (Cys634Tyr), all three of which were present in both MEN2A and FMTC families.
|
7835899 |
1994 |