Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.

doi:10.1016/j.euo.2019.11.002

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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...

Topics

Adolescent
Adult
Aged
Carcinoma, Renal Cell
DNA Mutational Analysis
Early Detection of Cancer
Female
Follow-Up Studies
Fumarate Hydratase
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Kidney

Kidney Neoplasms

Leiomyomatosis

Magnetic Resonance Imaging

Male

Medical History Taking

Middle Aged

Source

Open in PubMed

Identifiers

PMID: 31831373
DOI: 10.1016/j.euo.2019.11.002

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