Genetic Testing and Management in Early-Onset Kidney Cancer Brian Shuch, 2014

Information about the earlier median onset age for hereditary kidney cancers to justify earlier genetic testing.


The Basics on Genes and Genetic Disorders

This gives an easier to understand view of chromosomes, genes and inheritance.

Genetic Fact Sheets

Useful Australian documents describing different aspects of genetics in simple terms.

Showing labs worldwide testing Hereditary leiomyomatosis and renal cell cancer

A list of laboratories worldwide that test for alterations to the FH Gene (but in USA make sure they are CLIA certified).

The UK NHS genetic test laboratory information HLRCC/MCUL

In it there is a statement that the Fumarate Hydratase enzyme test is not recommended because of difficulty in interpreting the results even in with a FH mutation analysis.

The UK NHS genetic test referral sheet HLRCC/MCUL

The genetic counselor will complete.

Brenda - The Comprehensive Enzyme Information System EC - fumarate hydratase

Also has a large number of references to technical papers.


Structural basis of fumarate hydratase deficiency Sarah Picaud, Kathryn L. Kavanagh, Wyatt W. Yue, Wen Hwa Lee, Susanne Muller-Knapp, Opher Gileadi, James Sacchettini, and Udo Oppermann,2011

This Open access article is a detailed technical genetic study of FH mutations. There is an interactive version of this document where colored images of molecules can be rotated(May require a free plug-in for your browser).


The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.BMC Med Genet. 2008 Bayley JP, Launonen V, Tomlinson IP

This describes the database and how data about FH gene mutations is collated. Most people will not easily understand the fine detail which is presented in the database itself.

The list of over a hundred mutations and see Mutation ids in the form of FH_00nnn

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer Taru Ahvenainen, Heli J. Lehtonen, Rainer Lehtonen, Pia Vahteristo, Kristiina Aittomäki, Gareth Baynam, Charlotte Dommering, Charis Eng, Stephen B. Gruber, Henrik Grönberg, Rauno Harvima, Riitta Herva, Marja Hietala, Minna Kujala, Helena Kääriäinen, Lone Sunde, Outi Vierimaa, Patrick J. Pollard, Ian P.M. Tomlinson, Erik Björck, Lauri A. Aaltonen, and Virpi Launonen,2008

This is a link to abstract, full article on subscription. It suggests that exonic or whole-gene FH deletions are not a frequent cause of HLRCC syndrome.


Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) W. Heinritz, U. Paasch, M. Sticherling, C. Wittekind, J.C. Simon, U.G. Froster, and R. Renner, 2007

An interesting analysis of the connection between two families in Germany and England to a Polish ancestor. Has a good photograph of cutaneous leiomyoma on the face.


Distinct expression profile in fumarate-hydratasedeficient uterine fibroids Sakari Vanharanta, Patrick J. Pollard, Heli J. Lehtonen, Pa¨ ivi Laiho, Jari Sjo¨ berg,Arto Leminen, Kristiina Aittoma¨ki, Johanna Arola, Mogens Kruhoffer, Torben F. Ørntoft,Ian P. Tomlinson, Maija Kiuru, Diego Arango and Lauri A. Aaltonen, Human Molecular Genetics, 2006, Vol. 15, No. 1

Description of the comparison of HLRCC fibroids with fibroids of the general population at the genetic and cell chemistry levels.


Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer Ming-Hui Wei, Ousmane Toure, Gladys Glenn, Manop Pithukpakorn, Lenn Neckers, Catherine Stolle, Peter Choyke, Robert Grubb, Lindsay Middelton, Maria L Turner, McClellan Walther, Maria Merino, Berton Zbar, W. Marston Linehan, and Jorge R Toro, 2005

Analysis of FH genetic mutations in a number of families.


Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA

This is the widely quoted paper describing that mutations in the fumarate hydratase (FH) Gene are the cause of the symptoms of HLRCC.

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Last modified: December 13 2017 22:29:33.