|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phaeochromocytoma was diagnosed in 85/309 patients with RET mutations in the following exons (phaeos/all carriers, %): exon 11 (56/120, 46.6%); exon 16 (7/17, 41.2%), exon 10 (14/47, 29.8%), and exon 13-15 (2/116, 1.7%).
|
28605116 |
2017 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
BEFREE |
Rarely, patients present with typical physical features of MEN2B but without associated endocrinopathies (medullary thyroid carcinoma or pheochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed 'pure mucosal neuroma syndrome'.
|
26708403 |
2016 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The objectives of this study are to describe the rare M918V RET mutation discovered in 8 MTC kindreds from Brazil lacking the MEN 2B phenotype classically observed in M918T patients and to investigate the presence of a founder effect for this germline mutation.
|
27807060 |
2016 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
BEFREE |
The MEN2A and MEN2B syndromes are due to activating mutations in the proto-oncogene RET (Rearranged in Transfection) and are characterized by different phenotypic features of the affected patients.
|
26184857 |
2016 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically associated with multiple endocrine neoplasia type 2B (MEN 2B) with highly aggressive medullary thyroid cancer (MTC), pheochromocytoma and a unique phenotype.
|
27807060 |
2016 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RET germline mutations cause multiple endocrine neoplasia type 2 syndrome (MEN 2A) characterized by complete penetrance of medullary thyroid cancer (MTC), and lower prevalence of Pheo and hyperparathyroidism.
|
26497911 |
2016 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phaeochromocytoma developed in 41 patients (18% of all RET proto-oncogene mutations carriers).
|
26884116 |
2016 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to determine the mutation underlying MEN2A in a female patient diagnosed with bilateral pheochromocytoma at age 31 years and with medullary thyroid carcinoma (MTC) 6 years later.
|
26765577 |
2016 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rarely, patients present with typical physical features of MEN2B but without associated endocrinopathies (medullary thyroid carcinoma or pheochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed 'pure mucosal neuroma syndrome'.
|
26708403 |
2016 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A later diagnosis revealed bilateral pheochromocytoma and RET proto-oncogene mutation in codon 634.
|
26457501 |
2015 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bilateral Pheochromocytomas in MEN2A Syndrome: A Two-Institution Experience.
|
26071011 |
2015 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
No mutation was found for MEN2A, MEN2B, and pheochromocytoma in exon10 in this population.
|
25694125 |
2015 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report new, unrelated Brazilian individuals with germline RET Y791F-only: two tumour-free elderly controls; two individuals with sporadic MTC whose Y791F-carrying relatives did not show any evidence of tumours; and a 74-year-old phaeochromocytoma patient without MTC.
|
25425582 |
2015 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These autosomal dominant conditions occur in four types: MEN1 due to inactivating MEN1 mutations; MEN2A and MEN2B (MEN3) due to activating mutations of RET and MEN4 due to inactivating cyclin-dependent kinase inhibitor 1B (CDKN1B) mutations.
|
24931355 |
2014 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Forty-four MEN 2B patients carrying inherited (3 patients) and de novo (41 patients) M918T RET mutations were examined for signs and symptoms prompting MEN 2B.
|
23979292 |
2014 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop.
|
25162666 |
2014 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations.
|
24375508 |
2014 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A comparison of RET variant frequencies between patients with and without PHEO was performed.
|
24616415 |
2014 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
We hypothesised that PC/PGLs containing SDHx or VHL mutations, and succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumours (GISTs), would overexpress miR-210 relative to non-SDH or -VHL-mutated counterparts. miR-210 was analysed by quantitative PCR in i) 39 PC/PGLs, according to genotype (one SDHA, five SDHB, seven VHL, three NF1, seven RET, 15 sporadic, one unknown) and pathology (18 benign, eight atypical, 11 malignant, two unknown); ii) 18 GISTs, according to SDHB immunoreactivity (nine SDH-deficient and nine SDH-proficient) and iii) two novel SDHB-mutant neurosphere cell lines. miR-210 was higher in SDHx- or VHL-mutated PC/PGLs (7.6-fold) compared with tumours without SDHx or VHL mutations (P=0.0016). miR-210 was higher in malignant than in unequivocally benign PC/PGLs (P=0.05), but significance was lost when benign and atypical tumours were combined (P=0.08).
|
24623741 |
2014 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with RET mutations develop pheochromocytomas in 50% of cases.
|
24361808 |
2014 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our report suggests that cases with S891A mutation, akin to those with other RET mutations, require screening for pheochromocytoma.
|
24449023 |
2014 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel combination of tandem RET mutations (Q781R/V804M) in a MEN2B-like patient.
|
23468374 |
2013 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
RET, a transmembrane receptor tyrosine kinase and a receptor for the glial cell-derived neurotrophic factor family ligands, was one of the first oncogenes to be identified, and has been shown to be an oncogene in thyroid cancer and pheochromocytoma.
|
22751117 |
2013 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All patients with a codon 918 mutation (MEN2B) developed PHEO by age 56 years.
|
23416954 |
2013 |