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Service de GÃ©nÃ©tique, HÃ´pital EuropÃ©en Georges Pompidou

ABSTRACT: Data Access Committee EGAC00001000224

PROVIDER: EGAC00001000224 | EGA |

REPOSITORIES: EGA

ACCESS DATA

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Publications

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Castro-Vega Luis Jaime LJ Letouzé Eric E Burnichon Nelly N Buffet Alexandre A Disderot Pierre-Hélie PH Khalifa Emmanuel E Loriot Céline C Elarouci Nabila N Morin Aurélie A Menara Mélanie M Lepoutre-Lussey Charlotte C Badoual Cécile C Sibony Mathilde M Dousset Bertrand B Libé Rossella R Zinzindohoue Franck F Plouin Pierre François PF Bertherat Jérôme J Amar Laurence L de Reyniès Aurélien A Favier Judith J Gimenez-Roqueplo Anne-Paule AP

Nature communications 20150127

Pheochromocytomas and paragangliomas (PCCs/PGLs) are neural crest-derived tumours with a very strong genetic component. Here we report the first integrated genomic examination of a large collection of PCC/PGL. SNP array analysis reveals distinct copy-number patterns associated with genetic background. Whole-exome sequencing shows a low mutation rate of 0.3 mutations per megabase, with few recurrent somatic mutations in genes not previously associated with PCC/PGL. DNA methylation arrays and miRN ...[more]

PMID: 25625332

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