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Article

Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma.

Genes, chromosomes & cancer - 1 Jun 2017

Vocke Cathy D, Ricketts Christopher J, Merino Maria J, Srinivasan Ramaprasad, Metwalli Adam R, Middelton Lindsay A, Peterson James, Yang Youfeng, Linehan W Marston

Abstract excerpt

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a familial cancer syndrome associated with the development of cutaneous and uterine leiomyomas, and an aggressive form of type 2 papillary kidney cancer. HLRCC is characterized by germline mutation of the FH gene. This study evaluated the prevalence and clinical phenotype of FH deletions in HLRCC patients. Patients with phenotypic manifestations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28196407
DOI: 10.1002/gcc.22452
PMCID: PMC6637959

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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