|
Familial medullary thyroid carcinoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Familial medullary thyroid carcinoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.
|
11932300 |
2002 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC in RET mutated MEN-2a gene carriers in childhood are found at the age of 4 years.
|
12711285 |
2003 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC is inherited as an autosomal dominant trait and is associated with germline mutations of the RET proto-oncogene.
|
15516777 |
2004 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC is mostly associated with variations in the 5 cysteine RET radicals and codon-risk management protocols are of considerable value but not infallible.
|
18365214 |
2008 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial medullary thyroid cancer is now viewed as a phenotypic variant of MEN2A with decreased penetrance for PHEO and PHPT rather than a distinct entity.
|
23652668 |
2013 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC-associated RET mutations were restricted to exons 10 and 13 affecting ∼5% of unselected adults with HD.
|
23744765 |
2013 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC samples with the C634 RET mutation exhibited a higher expression of VEGFR3 and KIT than the M918T RET-mutated and non-mutated RET tumor samples (P=0.005 and P=0.007 respectively) and a lower expression of VEGFR1 (P=0.04).
|
23780998 |
2013 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC is primarily associated with mutations in the rearranged during transfection (RET) proto-oncogene.
|
24449662 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTC can be sporadic (75%) or familial (25%) and the 2 forms are distinguished by RET mutations analysis.
|
30717909 |
2019 |
|
Familial medullary thyroid carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
MEN2A and FMTC mutations result in a constitutive catalytic activity and as a consequence convert RET into a dominantly acting transforming gene.
|
10652352 |
2000 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET mutational analysis revealed a rare missense point mutation in exon 15 of RET (A891S), associated with FMTC.
|
11849247 |
2002 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET oncogene mutations in 75 cases of familial medullary thyroid carcinoma in Japan.
|
15271413 |
2005 |
|
Familial medullary thyroid carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors.
|
16029119 |
2005 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.
|
21655256 |
2011 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET gene mutations were detected in 15 (29.4%) patients, with MEN 2A/FMTC in 13 patients and MEN 2B in 2 patients.
|
21857107 |
2011 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma.
|
24699901 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rearranged during transfection (RET) mutations are well-known genetic events in sporadic and familial medullary thyroid carcinoma (FMTC).
|
25163725 |
2014 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET mutations are associated with the dominantly inherited cancer syndromes multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid carcinoma (FMTC).
|
7563185 |
1995 |
|
Familial medullary thyroid carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
RET germline mutations were found to predispose to the development of three variants of multiple endocrine neoplasia type 2, MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).
|
8733882 |
1996 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET mutations were identified in 16 Australian and New Zealand MEN 2A or FMTC families.
|
8849577 |
1996 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET gene alterations as disease-causative mutations have been demonstrated in five different disease entities: Hirschsprung's disease (HD); papillary thyroid carcinoma; and three types of inherited cancer syndromes: multiple endocrine neoplasia (MEN) 2A, MEN 2B, and familial medullary thyroid carcinoma.
|
9035202 |
1997 |
|
Familial medullary thyroid carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RET protooncogene mutation analysis is a routinely performed predictive DNA test in kindreds affected by multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid carcinoma (FMTC), and is a valuable diagnostic tool in newly diagnosed cases of medullary thyroid carcinoma (MTC).
|
9288142 |
1997 |