|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We aimed to assess the genetic background of Hirschsprung disease using a genome-wide association analysis combined with sequencing all RET exons in samples from 105 Hirschsprung disease cases (30 familial and 75 sporadic) and 386 controls.
|
30031151 |
2019 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic cases.
|
29601828 |
2018 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, asymptomatic carriers of high-risk RET mutations affecting the ECR were significantly younger and frequently showed C-cell neoplasia, multifocality, and MTC when compared with mutations affecting the ITK domain in the MEN2A/familial MTC families.
|
26033033 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Exons 10, 11, 13, and 16 were sequenced in all, and all exons of RET in 43 of the subjects, including those with thyroid cancer, RET mutations, suspicious clinical findings, and familial or long-segment disease.
|
23744765 |
2013 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form.
|
23059849 |
2013 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
MicroRNA profiles in familial and sporadic medullary thyroid carcinoma: preliminary relationships with RET status and outcome.
|
22747440 |
2012 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Medullary thyroid carcinoma (MTC) derives from the parafollicular C cells, being sporadic in 75% of cases and familial in 25%, due to RET proto-oncogene germinal mutations.
|
21422198 |
2011 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No evidence of RET germline mutations in familial pituitary adenoma.
|
20956458 |
2011 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant percentage of hidden familial MTC (FMTC).
|
21054478 |
2011 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Those with RET C620 variations were subjected to familial evaluation for coexisting HSCR-MEN2.
|
20152359 |
2010 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the RET proto-oncogene have been demonstrated to be causative of the familial form of medullary thyroid cancer.
|
18327036 |
2008 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An activating germline RET proto-oncogene mutation responsible for a multiple endocrine neoplasia syndrome type 2 (MEN2) or a familial hereditary MTC syndrome is carried by 25% to 35% of patients with MTC.
|
18502338 |
2008 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
RET gene rearrangements, which lead to the generation of chimeric RET/papillary thyroid carcinoma (PTC) oncogenes, occur in PTC, whereas RET point mutations occur in familial multiple endocrine neoplasia type 2 (MEN2) and sporadic medullary thyroid carcinomas (MTC).
|
16778204 |
2006 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Germline VHL mutations may be detected in 5-11% of all phaeochromocytoma cases and mutation analysis of VHL and other phaeochromocytoma susceptibility genes (SDHB, SDHD and RET) should be performed in all cases of familial, multiple or early onset phaeochromocytomas, and considered in other cases.
|
16728571 |
2006 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, on genotyping a group of 172 sporadic or familial pheochromocytomas, we characterized four unrelated probands with familial pheochromocytomas without any sequence variants of RET (exons 8, 10, 11, 13, 14, 15, and 16) or the entire coding sequence of VHL, SDHB, SDHC, SDHD, and EGLN3 (exon-intron boundaries included).
|
17102081 |
2006 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
So far, germline mutations in five genes have been identified to be responsible for familial PHEOs: the von Hippel-Lindau gene, which causes von Hippel-Lindau syndrome, the RET gene leading to multiple endocrine neoplasia type 2, the neurofibromatosis type 1 gene, which is associated with von Recklinghausen's disease and the genes encoding the B and D subunits of mitochondrial succinate dehydrogenase (SDHB, SDHD), which are associated with familial paragangliomas and PHEOs.
|
17119341 |
2006 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Activating mutations of the RET proto-oncogene are associated with inherited syndromes, multiple endocrine neoplasia (MEN2A/2B) and with familial and sporadic medullary thyroid cancer (MTC).
|
16954442 |
2006 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The molecular pathogenesis of familial multiple endocrine neoplasia (MEN) type 2 (parathyroid adenoma with medullary thyroid carcinoma and adrenal pheochromocytoma) is associated with a germ-line mutation in the RET proto-oncogene.
|
15875728 |
2005 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in the rearranged during transfection (RET) proto-oncogene in exons 10, 11, 13, 14, 15 and 16 are known to be a cause of most of the familial forms.
|
15531714 |
2004 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
RET is the major gene associated with HSCR, and germline mutations of this gene account for up 50% of familial and up to 15 to 20% of sporadic cases in HSCR.
|
12632375 |
2003 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
RET proto-oncogene germ line mutations are associated with the inherited multiple endocrine neoplasia type 2 syndromes (MEN 2), as well as with familial and sporadic Hirschsprung's disease (HSCR).
|
11935126 |
2002 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence of C cell hyperplasia should always be reported; however its usefulness for indicating familial risk is limited and its role as a preneoplastic condition in patients without RET-protooncogene mutations remains to be elucidated.
|
12089863 |
2002 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The highest proportion of both familial and sporadic cases is due to mutations of the RET proto-oncogene.
|
11973622 |
2002 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
RET rearrangements in familial papillary thyroid carcinomas.
|
11463498 |
2001 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to screen a panel of 16 cases of familial idiopathic slow-transit constipation, including 4 families in which there were relatives with Hirschsprung's disease, for RET and glial cell-derived neurotrophic factor mutations previously identified in Hirschsprung's disease.
|
10859088 |
2000 |