|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Medullary carcinoma of thyroid
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The gene(s) responsible for two additional dominantly inherited disorders involving cancer of the medullary thyroid, MEN 2B (MEN2B), and dominantly inherited MTC without additional clinical features (MTC1), also map to this region.
|
1351867 |
1992 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Early treatment of hereditary medullary thyroid carcinoma after attribution of multiple endocrine neoplasia type 2 gene carrier status by screening for ret gene mutations.
|
7491519 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of the ret proto-oncogene on chromosome 10q11.2 are the underlying cause of hereditary medullary thyroid carcinoma (MTC), either as familial MTC only (FMTC) or as a part of multiple endocrine neoplasia type 2 syndrome (MEN 2).
|
7491529 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, exon 10 and 11 mutations, commonly found in familial MTC and MEN 2A, rarely occur in sporadic MTC; somatic mutation of RET codon 918 appears to play a role in the tumourigenesis of a significant minority of sporadic MTC but not MEN 2A tumours.
|
7536460 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
BEFREE |
The RET proto-oncogene, a receptor tyrosine kinase, has been evaluated as a candidate gene for multiple endocrine neoplasia type 2A and type 2B (MEN 2A and MEN 2B), for familial medullary thyroid carcinoma (FMTC), and for sporadic cases of medullary thyroid carcinoma (MTC) and pheochromocytomas.
|
7595167 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To determine the incidence of RET mutations in medullary thyroid carcinoma in Japan, we investigated 14 medullary thyroid carcinomas (comprising 1 case of MEN 2A, 1 case of MEN 2B, 2 cases of familial medullary thyroid carcinoma and 10 cases of sporadic).
|
7627269 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Group B: five (24%) of 21 patients with seemingly sporadic MTC had RET mutations at codons 618 (one), 620 (one), or 634 (three).
|
7638742 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Systematic analysis for germline mutations of the RET proto-oncogene was performed in a series of 67 patients with apparently sporadic MTC to determine whether they were true sporadic cases or unsuspected de novo MEN 2 cases.
|
7641404 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The process of DNA analysis for RET proto-oncogene mutations is demonstrated in one family with hereditary medullary thyroid carcinoma.
|
7670926 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This definition of a signal transduction pathway that can regulate ret gene expression, and of the position of ret gene expression in endocrine differentiation, should help clarify the precise role of this gene in normal neuroendocrine development and in the formation of MTC.
|
7743500 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
BEFREE |
Point mutation of the RET proto-oncogene in the TT human medullary thyroid carcinoma cell line.
|
7864888 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These maps will facilitate the identification of genes that can be considered candidates for MEN2B and the identification of tumor-specific alterations important in sporadic MTC.
|
7902324 |
1993 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MEN 2B represents the third form of heritable MTC known to be an allele of RET.
|
7906417 |
1994 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations of the RET proto-oncogene have recently been reported in association with MEN 2A and familial MTC.
|
7906866 |
1994 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have analysed 118 families with inherited medullary thyroid carcinoma (MTC) for mutations of the RET proto-oncogene.
|
7907913 |
1994 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
CTD_human |
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
|
7915165 |
1994 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
BEFREE |
Of 80 MEN2A gene carriers (in 61 of whom carrier status was proved by DNA analysis), 66 had abnormal plasma calcitonin values and medullary thyroid carcinoma.
|
7915822 |
1994 |
|
Medullary carcinoma of thyroid
|
0.700 |
Biomarker
|
disease |
BEFREE |
The genetic loci RET, D10S94, and D10S102 from human chromosome 10q11.2 are very closely linked to a locus responsible for the multiple endocrine neoplasia type 2 (MEN2A and MEN2B) and medullary thyroid carcinoma (MTC1) familial cancer syndromes.
|
8093642 |
1993 |
|
Medullary carcinoma of thyroid
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The DNA segment encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in MTC and phaeochromocytoma and at lower levels in normal human thyroid.
|
8099202 |
1993 |
|
Medullary carcinoma of thyroid
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This region encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in medullary thyroid carcinoma (MTC) and pheochromocytoma.
|
8556060 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of the RET mutation in the Dutch population with hereditary C-cell carcinoma facilitates genetic testing for families or individuals at risk for MEN 2A, FMTC, and MEN 2B.
|
8557249 |
1996 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
Medullary carcinoma of thyroid
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found no correlation between the presence of other somatic genetic events, such as loss of heterozygosity on chromosome arms 1p and 22q, and RET mutation status in the various subpopulations of MTC.
|
8616867 |
1996 |