Condition: Hereditary Leiomyomatosis and Renal Cell Cancer


rs121913119 in FH gene and Hereditary Leiomyomatosis and Renal Cell Cancer PMID 26237645 2015 Local generation of fumarate promotes DNA repair through inhibition of histone H3 demethylation.

PMID 11865300 2002 Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

PMID 8200987 1994 Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.