Annals of Human Genetics · 2007 · 17 citations · 18 references
Life SciencesGeneticsMolecular GeneticsCancer GeneticsHuman GeneticsMedical GeneticsGenetic DisordersGermline Cancer PredispositionGermline Cancer SusceptibilityHereditary Cancer SyndromesKidney CancerUterine LeiomyomaFamilial Cancer SyndromesFamilial SyndromesFamily Pedigree AnalysisFounder Effect AnalysisGermline Mutation AnalysisHereditary LeiomyomatosisHereditary Renal Cell CancerMutation
We report on the results of clinical investigation, pedigree analysis, mutation screening and haplotyping in a family with the syndrome of multiple cutaneous and uterine leiomyomas (MCUL1) and a germline missense mutation (R58P) in the fumarate hydratase gene (FH). We provide evidence for a founder effect for the identified mutation and distant relationship of our family to another familial case of MCUL1 associated with renal cell cancer, which was recently published with the same mutation.
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Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update
Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations