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SNP data from 78 pheochromocytomas and paragangliomas

ABSTRACT: SNP profiles from 78 pheochromocytomas and paragangliomas were analyzed to detect copy number changes and LOH. 78 pheochromocytomas and paragangliomas were analyzed with Illumina Human610-Quad v1.0 BeadChips.

ORGANISM(S): Homo sapiens

SUBMITTER: Eric Letouzé

PROVIDER: E-GEOD-38525 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

Burnichon Nelly N Buffet Alexandre A Parfait Béatrice B Letouzé Eric E Laurendeau Ingrid I Loriot Céline C Pasmant Eric E Abermil Nasséra N Valeyrie-Allanore Laurence L Bertherat Jérôme J Amar Laurence L Vidaud Dominique D Favier Judith J Gimenez-Roqueplo Anne-Paule AP

Human molecular genetics 20120906 26

Germline mutations in the RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, MAX, TMEM127, NF1 or VHL genes are identified in about 30% of patients with pheochromocytoma or paraganglioma and somatic mutations in RET, VHL or MAX genes are reported in 17% of sporadic tumors. In the present study, using mutation screening of the NF1 gene, mapping of chromosome aberrations by single nucleotide polymorphism (SNP) array, microarray-based expression profiling and immunohistochemistry (IHC), we addressed the implicat ...[more]

PMID: 22962301

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