List of works - Alberto Cascón

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

scientific article (publication date: 19 June 2011)

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

scientific article published on 27 March 2012

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

scientific article

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

scientific article published on 13 December 2013

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

scientific article

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

scientific article published in December 2010

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out

scientific article published on 7 April 2009

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis

scientific article published on 14 February 2013

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

scientific article

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

scientific article published on 10 April 2007

Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis.

scientific article

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

scientific article

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

scientific article published in February 2008

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

scientific article published on 18 November 2016

Expression profiling of T-cell lymphomas differentiates peripheral and lymphoblastic lymphomas and defines survival related genes

scientific article

Regulatory polymorphisms in β-tubulin IIa are associated with paclitaxel-induced peripheral neuropathy.

scientific article published on 20 June 2012

Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families

scientific article

PPP1CA contributes to the senescence program induced by oncogenic Ras.

scientific article published on 19 January 2008

Novel pheochromocytoma susceptibility loci identified by integrative genomics

scientific article published on 01 November 2005

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

scientific article published on 12 August 2015

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

scientific article published on 01 March 2005

Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

scientific article published in March 2006

Are we overestimating the penetrance of mutations in SDHB?

scientific article published in June 2010

Molecular characterisation of a common SDHB deletion in paraganglioma patients.

scientific article published on 5 December 2007

Evidence of MEN-2 in the original description of classic pheochromocytoma.

scientific article published on September 2007

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

scientific article

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients

scientific article published on June 2007

Genetic and epigenetic profile of sporadic pheochromocytomas

scientific article

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family.

scientific article

Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways

scientific article published on 24 June 2013

Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.

scientific article published on 18 July 2017

Brick1 is an essential regulator of actin cytoskeleton required for embryonic development and cell transformation

scientific journal article

DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

scientific article published on 30 March 2015

Usefulness of Negative and Weak–Diffuse Pattern of SDHB Immunostaining in Assessment of SDH Mutations in Paragangliomas and Pheochromocytomas

scientific article published on 01 December 2013

Gain-of-function mutations in DNMT3A in patients with paraganglioma

scientific article published on 08 May 2018

Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions

scientific article

SDHC mutation in an elderly patient without familial antecedents.

scientific article

ATRX driver mutation in a composite malignant pheochromocytoma

scientific article

PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics

scientific article published on 25 May 2017

Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma.

scientific article

Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

article

A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma

article

Hematologic β-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity.

scientific article

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

scientific article published on 27 July 2018

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

scientific article published on 16 July 2018

Functional and in silico assessment of MAX variants of unknown significance

scientific article

From Transcriptional Profiling to Tumor Biology in Pheochromocytoma and Paraganglioma

scientific article published on March 1, 2012

Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

scientific article published on 5 October 2010

VEGF, VEGFR3, and PDGFRB protein expression is influenced by RAS mutations in medullary thyroid carcinoma

scientific article

SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.

scientific article

List of works by Alberto Cascón

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

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

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis.

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

Expression profiling of T-cell lymphomas differentiates peripheral and lymphoblastic lymphomas and defines survival related genes

Regulatory polymorphisms in β-tubulin IIa are associated with paclitaxel-induced peripheral neuropathy.

Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families

PPP1CA contributes to the senescence program induced by oncogenic Ras.

Novel pheochromocytoma susceptibility loci identified by integrative genomics

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

Are we overestimating the penetrance of mutations in SDHB?

Molecular characterisation of a common SDHB deletion in paraganglioma patients.

Evidence of MEN-2 in the original description of classic pheochromocytoma.

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients

Genetic and epigenetic profile of sporadic pheochromocytomas

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family.

Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways

Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.

Brick1 is an essential regulator of actin cytoskeleton required for embryonic development and cell transformation

DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

Usefulness of Negative and Weak–Diffuse Pattern of SDHB Immunostaining in Assessment of SDH Mutations in Paragangliomas and Pheochromocytomas

Gain-of-function mutations in DNMT3A in patients with paraganglioma

Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions

SDHC mutation in an elderly patient without familial antecedents.

ATRX driver mutation in a composite malignant pheochromocytoma

PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics

Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma.

Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma

Hematologic β-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity.

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

Functional and in silico assessment of MAX variants of unknown significance

From Transcriptional Profiling to Tumor Biology in Pheochromocytoma and Paraganglioma

Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

VEGF, VEGFR3, and PDGFRB protein expression is influenced by RAS mutations in medullary thyroid carcinoma

SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.