Article
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Human mutation - 1 Jan 2010
Ricketts Christopher J, Forman Julia R, Rattenberry Eleanor, Bradshaw Nicola, Lalloo Fiona, Izatt Louise, Cole Trevor R, Armstrong Ruth, Kumar V K Ajith, Morrison Patrick J, Atkinson A Brew, Douglas Fiona, Ball Steve G, Cook Jackie, Srirangalingam Umasuthan, Killick Pip, Kirby Gail, Aylwin Simon, Woodward Emma R, Evans D Gareth R, Hodgson Shirley V, Murday Vicky, Chew Shern L, Connell John M, Blundell Tom L, Macdonald Fiona, Maher Eamonn R
Abstract excerpt
Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL), and other tumor types. We report tumor risks in 358 patients with SDHB (n=295) and SDHD (n=63) mutations. Risks of HNPGL and pheochromocytoma in SDHB mutation carriers were 29% and 52%, respectively, at age 60 years and 71% and 29%, respectively, in...
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