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Whole-exome sequencing identifies Max mutations as a cause of hereditary pheochromocytoma

ABSTRACT: Whole-exome sequencing identifies Max mutations as a cause of hereditary pheochromocytoma

PROVIDER: PRJEB2461 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR031607_1.fastq.gz	Fastqsanger.gz
	ERR031607_2.fastq.gz	Fastqsanger.gz
	ERR031608_1.fastq.gz	Fastqsanger.gz
	ERR031608_2.fastq.gz	Fastqsanger.gz
	ERR031609_1.fastq.gz	Fastqsanger.gz

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Genotyping by whole-exome sequencing of human with hereditary pheochromocytoma

Project description:Whole exome sequencing identification of Max mutations and further validation in pheochromocytoma patients

2012-03-01 | E-MTAB-591 | biostudies-arrayexpress

Germline Mutations in TMEM127 Confer Susceptibility to Pheochromocytoma

Project description:Pheochromocytomas, catecholamine-secreting tumors of neural crest origin, are frequently hereditary. However, the molecular basis of the majority of these tumors is unknown. We identified the transmembrane-encoding gene TMEM127 on chromosome 2q11 as a new pheochromocytoma susceptibility gene. In a cohort of 103 samples, we detected truncating germline TMEM127 mutations in approximately 30% of familial tumors and about 3% of sporadic-appearing pheochromocytomas without a known genetic cause. The wild-type allele was consistently deleted in tumor DNA, suggesting a classic mechanism of tumor suppressor gene inactivation. Pheochromocytomas with mutations in TMEM127 are transcriptionally related to tumors bearing NF1 mutations and, similarly, show hyperphosphorylation of mammalian target of rapamycin (mTOR) effector proteins. Accordingly, in vitro gain-of-function and loss-of-function analyses indicate that TMEM127 is a negative regulator of mTOR. TMEM127 dynamically associates with the endomembrane system and colocalizes with perinuclear (activated) mTOR, suggesting a subcompartmental-specific effect. Our studies identify TMEM127 as a tumor suppressor gene and validate the power of hereditary tumors to elucidate cancer pathogenesis.

2010-02-14 | GSE19987 | GEO

A large germline alteration affecting MAX and FUT8, causing familial bilateral malignant pheochromocytoma and renal oncocytoma

Project description:Familial pheochromocytoma (PCC) has been associated with germline mutations in 14 genes. Here we investigated three siblings, who presented with (metastatic) bilateral pheochromocytomas, renal oncocytoma, and erythrocytosis. By SNP-array on one patient’s germline DNA a large complex genomic alteration was identified encompassing the intragenic and promoter regions of Myc-Associated Factor X (MAX) and alpha-(1,6)-fucosyltransferase (FUT8). The alteration was confirmed in all patients, as well as loss of the wild type MAX and FUT8 alleles and corresponding loss of protein expression. Uniparental disomy of chromosome 14q, previously demonstrated as a hallmark for MAX-related PCC, was also shown in the index patient by SNP-array. Our results indicate that large genomic deletions of MAX should be considered in familial and bilateral PCC with prior negative testing for gene mutations. In addition, MAX appears to be a new tumor suppressor gene for renal oncocytomas.

2015-05-13 | GSE68794 | GEO

A large germline alteration affecting MAX and FUT8, causing familial bilateral malignant pheochromocytoma and renal oncocytoma

2015-05-13 | E-GEOD-68794 | biostudies-arrayexpress

Opposing Effects of HIF1α and HIF2α on Chromaffin Cell Phenotypic Features and Tumor Cell Proliferation: Insights from MAX [human]

Project description:Pheochromocytomas and paragangliomas (PPGLs) are catecholamine-producing tumors with diverse phenotypic features reflecting mutations in numerous genes, including MYC-associated factor X (MAX). To establish whether PPGL phenotypic differences reflect a MAX-mediated mechanism and opposing influences of HIF2α and HIF1α, we combined observational investigations in PPGLs and gene-manipulation studies in two pheochromocytoma cell lines. In cell lines lacking Max, re-expression of the gene resulted in maturation of phenotypic features and decreased cell cycle progression. In cell lines lacking Hif2α, overexpression of the gene led to immature phenotypic features, failure of dexamethasone to induce differentiation and increased proliferation. HIF1α has opposing actions to HIF2α. These model systems explain the features observed in PPGLs due to mutations of MAX and other PPGL susceptibility genes.

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Opposing Effects of HIF1α and HIF2α on Chromaffin Cell Phenotypic Features and Tumor Cell Proliferation: Insights from MAX [rat]

2014-09-18 | GSE50941 | GEO

Copy number profiles of pheochromocytoma and paraganglioma

Project description:Until now, it is nearly impossible to diagnose malignancy of pheochromocytoma/paraganglioma with pathological examinations. The aim of the study is to find the genes which can be applied as a biomarker in the clinic to distinguish benign and malignant forms of pheochromocytoma/paraganglioma.

2014-08-17 | GSE60457 | GEO

Opposing Effects of HIF1M-NM-1 and HIF2M-NM-1 on Chromaffin Cell Phenotypic Features and Tumor Cell Proliferation: Insights from MAX [human]

Project description:Pheochromocytomas and paragangliomas (PPGLs) are catecholamine-producing tumors with diverse phenotypic features reflecting mutations in numerous genes, including MYC-associated factor X (MAX). To establish whether PPGL phenotypic differences reflect a MAX-mediated mechanism and opposing influences of HIF2M-NM-1 and HIF1M-NM-1, we combined observational investigations in PPGLs and gene-manipulation studies in two pheochromocytoma cell lines. In cell lines lacking Max, re-expression of the gene resulted in maturation of phenotypic features and decreased cell cycle progression. In cell lines lacking Hif2M-NM-1, overexpression of the gene led to immature phenotypic features, failure of dexamethasone to induce differentiation and increased proliferation. HIF1M-NM-1 has opposing actions to HIF2M-NM-1. These model systems explain the features observed in PPGLs due to mutations of MAX and other PPGL susceptibility genes. 88 samples (primary pheochromocytoma (PCC)/paraganglioma tumors) were hybridized onto a cDNA microarray in order to investigate possible heterogeneity within these tumors. This series of tumors is an expansion of GSE19422 that includes nine additional tumors to examine the role of MAX mutations in PCC/PGL.

2014-09-18 | E-GEOD-51081 | biostudies-arrayexpress

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.

Project description:Distal hereditary motor neuropathies (dHMNs) are a heterogenous group of genetic disorders with length-dependent degeneration of motor axons. Obtaining a genetic diagnosis in patients with dHMN remains challenging. We performed exome sequencing in a diagnostic setting in 12 patients with a clinical diagnosis of dHMN. Potential disease-causing variants in genes associated with dHMN and other forms of inherited neuropathies/motor neuron diseases were validated using Sequenom. The coverage in the genes studied was >95% with an average coverage of >50 times. In none of the patients a mutations was found in genes previously reported to be associated with dHMN. However, in 2/12 patients a recessive mutation in histidine triad nucleotide binding protein 1 (HINT1, recently discovered as a cause of axonal neuropathy with neuromyotonia) was identified. Our results demonstrate the diagnostic value of exome sequencing for patients with inherited neuropathies. The phenotypic spectrum of recessive mutations in HINT1 includes dHMN. HINT1 should be added to the list of genes to check for in dHMN.

| S-EPMC4023208 | biostudies-literature

Gene expression analysis of pheochromocytoma samples carrying co-occurrent mutations in NF1 and DLST.

Project description:We performed gene expression profiling analysis using data obtained from RNA-seq of two pheochromocytoma samples carrying co-occurrent mutations in NF1 and DLST. The main goal of this project was to to gain insight into the role of these events in tumour development.

2022-11-25 | GSE217206 | GEO

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