LINKS TO HLRCC RESEARCH - Genetics
2014Genetic Testing and Management in Early-Onset Kidney Cancer
Information about the earlier median onset age for hereditary kidney cancers to justify earlier genetic testing.
2013The 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 188.8.131.52 - fumarate hydratase
Also has a large number of references to technical papers.
2011Structural basis of fumarate hydratase deficiency
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).
2008The 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
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
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.
2007Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
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.
2006Distinct expression profile in fumarate-hydratasedeficient uterine fibroids
Description of the comparison of HLRCC fibroids with fibroids of the general population at the genetic and cell chemistry levels.
2005Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
Analysis of FH genetic mutations in a number of families.
2002Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
This is the widely quoted paper describing that mutations in the fumarate hydratase (FH) Gene are the cause of the symptoms of HLRCC.