|
rs76262710
|
|
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
|
|
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
|
|
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 |
|
rs76262710
|
|
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
|
|
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 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: multiple endocrine neoplasia type 2.
|
21863057 |
2012 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
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
|
|
Familial medullary thyroid carcinoma
|
|
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
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
BEFREE |
A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation.
|
20119574 |
2010 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
|
19469690 |
2009 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
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 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Three novel mutations in the RET proto-oncogene.
|
11692159 |
2001 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A RET double mutation in the germline of a kindred with FMTC.
|
10826520 |
2000 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.
|
10323403 |
1999 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
|
9677065 |
1998 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma.
|
9621513 |
1998 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
|
9398735 |
1997 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
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 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.
|
9223675 |
1997 |
|
rs76262710
|
|
Familial medullary thyroid carcinoma
|
|
0.870 |
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 |