The genomic landscape of phaeochromocytoma (Q41643771)

6 October 2017

The genomic landscape of phaeochromocytoma (English)

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6 October 2017

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11

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15

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6 October 2017

Rodney J Hicks

14

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Aidan Flynn

Aidan Flynn

1

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Jason Li

Jason Li

10

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Grant McArthur

Grant McArthur

13

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Roderick J Clifton-Bligh

Roderick Clifton-Bligh

3

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Bruce Robinson

4

Bruce Robinson

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6 October 2017

Diana Benn

2

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6 October 2017

Alison H Trainer

5

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6 October 2017

Paul James

6

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6 October 2017

Annette Hogg

7

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6 October 2017

Kelly Waldeck

8

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6 October 2017

Joshy George

9

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6 October 2017

Anthony J Gill

12

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2 February 2015

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236

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78-89

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Pheochromocytoma: an update on genetics and management

21 January 2018

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Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

21 January 2018

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Clinical risk factors for malignancy and overall survival in patients with pheochromocytomas and sympathetic paragangliomas: primary tumor size and primary tumor location as prognostic indicators.

21 January 2018

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Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity

21 January 2018

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A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

21 January 2018

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Opposing effects of HIF1α and HIF2α on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC-associated factor X.

21 January 2018

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The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer

21 January 2018

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PHD2 mutation and congenital erythrocytosis with paraganglioma.

21 January 2018

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Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

21 January 2018

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Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

21 January 2018

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SDHA is a tumor suppressor gene causing paraganglioma

21 January 2018

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SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

21 January 2018

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Germline FH mutations presenting with pheochromocytoma.

21 January 2018

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Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase

21 January 2018

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In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.

21 January 2018

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Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

21 January 2018

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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

21 January 2018

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Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

21 January 2018

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The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor

21 January 2018

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A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors

21 January 2018

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ras mutations in endocrine tumors: mutation detection by polymerase chain reaction-single strand conformation polymorphism

21 January 2018

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MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

21 January 2018

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Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing.

21 January 2018

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H-RAS mutations are restricted to sporadic pheochromocytomas lacking specific clinical or pathological features: data from a multi-institutional series.

21 January 2018

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Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas

21 January 2018

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

21 January 2018

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Losses of chromosomes 1p and 3q are early genetic events in the development of sporadic pheochromocytomas

21 January 2018

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Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH.

21 January 2018

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Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis.

21 January 2018

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Discovery and saturation analysis of cancer genes across 21 tumour types

21 January 2018

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Deciphering signatures of mutational processes operative in human cancer

21 January 2018

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Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

21 January 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

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TopHat: discovering splice junctions with RNA-Seq

21 January 2018

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

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Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

21 January 2018

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SomaticSniper: identification of somatic point mutations in whole genome sequencing data

21 January 2018

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VarScan: variant detection in massively parallel sequencing of individual and pooled samples

21 January 2018

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JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data

21 January 2018

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Allele-specific copy number analysis of tumors

21 January 2018

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Inferring copy number and genotype in tumour exome data

21 January 2018

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virtualArray: a R/bioconductor package to merge raw data from different microarray platforms

21 January 2018

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edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

21 January 2018

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deFuse: an algorithm for gene fusion discovery in tumor RNA-Seq data

21 January 2018

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Loss of CDKN2A expression is a frequent event in primary invasive melanoma and correlates with sensitivity to the CDK4/6 inhibitor PD0332991 in melanoma cell lines

21 January 2018

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Criteria for inference of chromothripsis in cancer genomes

21 January 2018

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Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791.

21 January 2018

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RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.

21 January 2018

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Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome

21 January 2018

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Molecular mechanisms of fragile X syndrome: a twenty-year perspective

21 January 2018

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p19(ARF) /p14(ARF) controls oncogenic functions of signal transducer and activator of transcription 3 in hepatocellular carcinoma.

21 January 2018

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STAT3 negatively regulates thyroid tumorigenesis

21 January 2018

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Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas

21 January 2018

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DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors

21 January 2018

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The genomic landscape of small intestine neuroendocrine tumors

21 January 2018

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Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS.

21 January 2018

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Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution

21 January 2018

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The cohesin ring concatenates sister DNA molecules

21 January 2018

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Segregating sister genomes: the molecular biology of chromosome separation

21 January 2018

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Mutational inactivation of STAG2 causes aneuploidy in human cancer

21 January 2018

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DNA breaks and chromosome pulverization from errors in mitosis

21 January 2018

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In Brief: Chromothripsis and cancer.

21 January 2018

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Interplay between the cancer genome and epigenome

21 January 2018

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SDH mutations establish a hypermethylator phenotype in paraganglioma.

21 January 2018

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Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors

21 January 2018

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Association of age at diagnosis and genetic mutations in patients with neuroblastoma.

21 January 2018

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Altered telomeres in tumors with ATRX and DAXX mutations

21 January 2018

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Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway

21 January 2018

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Loss of maternal ATRX results in centromere instability and aneuploidy in the mammalian oocyte and pre-implantation embryo

21 January 2018

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Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain.

21 January 2018

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Glioblastoma cells containing mutations in the cohesin component STAG2 are sensitive to PARP inhibition

21 January 2018

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Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination

21 January 2018

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Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

21 January 2018

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Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma

21 January 2018

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Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PATH.4503

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6 October 2017

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