Article
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.
European urology oncology - 1 Dec 2020
Forde Claire, Lim Derek H K, Alwan Yousef, Burghel George, Butland Laura, Cleaver Ruth, Dixit Abhijit, Evans D Gareth, Hanson Helen, Lalloo Fiona, Oliveira Pedro, Vialard Lindsey, Wallis Yvonne, Maher Eamonn R, Woodward Emma R
Abstract excerpt
BACKGROUND: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome characterised by predisposition to cutaneous and uterine leiomyomata and renal cell carcinoma (RCC). OBJECTIVE: To define the clinical findings, molecular genetics, and prognosis in a cohort of 69 families with a fumarate hydratase (FH) pathogenic variant and/or clinical features of HLRCC. DESIGN, SETTING, AND...
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