Article
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Human molecular genetics - 15 Dec 2012
Burnichon Nelly, Buffet Alexandre, Parfait Béatrice, Letouzé Eric, Laurendeau Ingrid, Loriot Céline, Pasmant Eric, Abermil Nasséra, Valeyrie-Allanore Laurence, Bertherat Jérôme, Amar Laurence, Vidaud Dominique, Favier Judith, Gimenez-Roqueplo Anne-Paule
Abstract excerpt
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,...
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