Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations inSDHBandSDHD

J. Ricketts, Christopher; Forman, Julia; Rattenberry, Eleanor; Bradshaw, Nicola; Lalloo, Fiona; Izatt, Louise; Cole, Trevor; Armstrong, Ruth; K Ajith Kumar, V; J. Morrison, Patrick; Brew Atkinson, A.; Douglas, Fiona; Ball, Steve; Cook, Jackie; Srirangalingam, Umasuthan; Killick, Pip; Kirby, Gail; Aylwin, Simon; R. Woodward, Emma; Gareth Evans, D.; V. Hodgson, Shirley; Murday, V; L. Chew, Shern; Connell, John; L. Blundell, Tom; MacDonald, Fiona; R. Maher, Eamonn

doi:10.1002/humu.21136

Public

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations inSDHBandSDHD

Published in Human Mutation • Oct 3, 2009

Authors:

Christopher J. Ricketts

Julia Forman

Eleanor Rattenberry

Abstract

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 pheochromo...

Subject

SDHB

SDHD

Paraganglioma

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