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HIF and fumarate hydratase in renal cancer

Hereditary leiomyomatosis and renal cell cancer is a recently described hereditary cancer syndrome in which affected individuals are predisposed to the development of leiomyomas of the skin and uterus. In addition, this clinical entity also can result in the development of biologically aggressive ki...

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Detalles Bibliográficos
Autores principales: Sudarshan, S, Linehan, W M, Neckers, L
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2360036/
https://www.ncbi.nlm.nih.gov/pubmed/17211469
http://dx.doi.org/10.1038/sj.bjc.6603547
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author Sudarshan, S
Linehan, W M
Neckers, L
author_facet Sudarshan, S
Linehan, W M
Neckers, L
author_sort Sudarshan, S
collection PubMed
description Hereditary leiomyomatosis and renal cell cancer is a recently described hereditary cancer syndrome in which affected individuals are predisposed to the development of leiomyomas of the skin and uterus. In addition, this clinical entity also can result in the development of biologically aggressive kidney cancer. Affected individuals harbour a germline mutation of the fumarate hydratase (FH) gene, which encodes an enzyme that catalyses conversion of fumarate to malate in the Kreb's cycle. Thus far, proposed mechanisms for carcinogeneis associated with this syndrome include aberrant apoptosis, oxidative stress, and pseudohypoxic drive. At this time, the majority of accumulating data support a role for pseudohypoxic drive in tumour development. The link between FH mutation and pseudohypoxic drive may reside in the biochemical alterations resulting from diminished/absent FH activity. These biochemical derangements may interfere with oxygen homeostasis and result in a cellular environment conducive to tumour formation.
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spelling pubmed-23600362009-09-10 HIF and fumarate hydratase in renal cancer Sudarshan, S Linehan, W M Neckers, L Br J Cancer Review Hereditary leiomyomatosis and renal cell cancer is a recently described hereditary cancer syndrome in which affected individuals are predisposed to the development of leiomyomas of the skin and uterus. In addition, this clinical entity also can result in the development of biologically aggressive kidney cancer. Affected individuals harbour a germline mutation of the fumarate hydratase (FH) gene, which encodes an enzyme that catalyses conversion of fumarate to malate in the Kreb's cycle. Thus far, proposed mechanisms for carcinogeneis associated with this syndrome include aberrant apoptosis, oxidative stress, and pseudohypoxic drive. At this time, the majority of accumulating data support a role for pseudohypoxic drive in tumour development. The link between FH mutation and pseudohypoxic drive may reside in the biochemical alterations resulting from diminished/absent FH activity. These biochemical derangements may interfere with oxygen homeostasis and result in a cellular environment conducive to tumour formation. Nature Publishing Group 2007-02-12 2007-01-09 /pmc/articles/PMC2360036/ /pubmed/17211469 http://dx.doi.org/10.1038/sj.bjc.6603547 Text en Copyright © 2007 Cancer Research UK https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material.If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/.
spellingShingle Review
Sudarshan, S
Linehan, W M
Neckers, L
HIF and fumarate hydratase in renal cancer
title HIF and fumarate hydratase in renal cancer
title_full HIF and fumarate hydratase in renal cancer
title_fullStr HIF and fumarate hydratase in renal cancer
title_full_unstemmed HIF and fumarate hydratase in renal cancer
title_short HIF and fumarate hydratase in renal cancer
title_sort hif and fumarate hydratase in renal cancer
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2360036/
https://www.ncbi.nlm.nih.gov/pubmed/17211469
http://dx.doi.org/10.1038/sj.bjc.6603547
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