Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

J. Pollard, Patrick; Brière, J.-J.; Alam, Neyaz; Barwell, Julian; Barclay, Ella; C. Wortham, Noel; Hunt, Toby; D. Mitchell, Murray; E. Olpin, S.; J. Moat, Stuart; P. Hargreaves, Iain; Heales, Simon; Chung, Yuen‐Li; R. Griffiths, John; Dalgleish, A.; A. McGrath, John; J. Gleeson, Michael; V Hodgson, S; Poulsom, Richard; Rustin, Pierre; Tomlinson, Ian

doi:10.1093/hmg/ddi227

Public

Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

Published in Human Molecular Genetics • Jun 29, 2005

Authors:

Patrick J. Pollard

J.-J. Brière

Neyaz Alam

Abstract

The nuclear-encoded Krebs cycle enzymes, fumarate hydratase (FH) and succinate dehydrogenase (SDHB, -C and -D), act as tumour suppressors. Germline mutations in FH predispose individuals to leiomyomas and renal cell cancer (HLRCC), whereas mutations in SDH cause paragangliomas and phaeochromocytomas...

Subject

Biology

Germline

Genetics

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