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Article

High Frequency of Somatic Frameshift BHD Gene Mutations in Birt-Hogg-Dubé–Associated Renal Tumors

14 Jun 2005

Abstract excerpt

The Birt-Hogg-Dubé (BHD) syndrome is an inherited genodermatosis characterized by a predisposition to hamartomatous skin lesions, pulmonary cysts, and renal carcinoma. Seventy-seven renal tumors from 12 patients with germline BHD mutations were examined by DNA sequencing to identify somatic mutations in the second copy of BHD. Sequence alterations were detected in the majority of renal tumors (41 of 77, 53%),...

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PMID: 15956655
DOI: 10.1093/jnci/dji154

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Source receipt: pubmed, retrieved 7 Sept 2026.

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