[HTML][HTML] Hereditary leiomyomatosis and renal cell cancer: clinical, molecular, and screening features in a cohort of 185 affected individuals
C Forde, DHK Lim, Y Alwan, G Burghel… - European urology …, 2020 - Elsevier
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 participants
Clinical and molecular findings were obtained for 185 individuals from 69 families from four …
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 participants
Clinical and molecular findings were obtained for 185 individuals from 69 families from four …
