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Article

Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.

Cancer - 1 Jul 2017

Kopp Ryan P, Stratton Kelly L, Glogowski Emily, Schrader Kasmintan A, Rau-Murthy Rohini, Russo Paul, Coleman Jonathan A, Offit Kenneth

Abstract excerpt

BACKGROUND: Patients with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) resulting from fumarate hydratase (FH) mutations may present with skin, uterine, and renal tumors, with each having unique pathologic features. This study investigated the association between prospectively identified suspicious pathology (SP) and FH mutations when patients were referred for genetic testing. METHODS: This was an...

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Share to Carcinoma, Renal Cell
Share to Fumarate Hydratase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Neoplastic Syndromes, Hereditary

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Source

Identifiers

PMID: 28171700
DOI: 10.1002/cncr.30605

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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