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Epigenomic landscape of human colorectal cancer unveils an aberrant core of pan-cancer enhancers orchestrated by YAP/TAZ

The role of epigenetic deregulation in colorectal cancer (CRC) is not fully understood yet. Here the authors use patient-derived organoids, epigenomics and single-cell RNA-seq to reveal that YAP/TAZ are key regulators that bind to active enhancers in CRC and promote tumour survival.

Giulia Della Chiara
Federica Gervasoni
Massimiliano Pagani
ResearchOpen Access20 Apr 2021
Nature Communications

Volume: 12, P: 1-18
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

Alberto Cascón, Mercedes Robledo and colleagues show that MAX germline mutations confer susceptibility to hereditary pheochromocytoma. This finding supports a key role for MAX and its interaction partners in tumors of neural crest cell origin.

Iñaki Comino-Méndez
Francisco J Gracia-Aznárez
Alberto Cascón
Research19 Jun 2011
Nature Genetics

Volume: 43, P: 663-667
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

As a large number of genes have been implicated in the development of hereditary phaeochromocytomas and paragangliomas (PPGLs), next-generation sequencing (NGS) technology is ideally suited for carrying out genetic screening. This Consensus Statement proposes specific recommendations for the use of diagnostic NGS in hereditary PPGLs.

Rodrigo A. Toledo
Nelly Burnichon
Patricia L. M. Dahia
ReviewsOpen Access18 Nov 2016
Nature Reviews Endocrinology

Volume: 13, P: 233-247
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Patricia Dahia and colleagues show that germline mutations in TMEM127 confer susceptibility to pheochromocytomas. Their functional studies suggest that TMEM127 acts as a negative regulator of mTOR signaling.

Yuejuan Qin
Li Yao
Patricia L M Dahia
Research14 Feb 2010
Nature Genetics

Volume: 42, P: 229-233
Molecular analysis of two uncharacterized sequence variants of the VHL gene

Maddalena Martella
Leonardo Salviati
Alessandra Murgia
Research01 Nov 2006
Journal of Human Genetics

Volume: 51, P: 964-968
Gain-of-function mutations in DNMT3A in patients with paraganglioma

Laura Remacha
Maria Currás-Freixes
Alberto Cascón
Research08 May 2018
Genetics in Medicine

Volume: 20, P: 1644-1651

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Epigenomic landscape of human colorectal cancer unveils an aberrant core of pan-cancer enhancers orchestrated by YAP/TAZ

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Molecular analysis of two uncharacterized sequence variants of the VHL gene

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

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Epigenomic landscape of human colorectal cancer unveils an aberrant core of pan-cancer enhancers orchestrated by YAP/TAZ

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Molecular analysis of two uncharacterized sequence variants of the VHL gene

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

Search

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