High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors

Cathy D. Vocke, Youfeng Yang, Christian P. Pavlovich, Laura S. Schmidt, Michael L. Nickerson, Carlos A. Torres-Cabala, Maria J. Merino, McClellan M. Walther, Berton Zbar, W. Marston Linehan

Research output: Contribution to journalArticlepeer-review

Abstract

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%), with loss of heterozygosity at the BHD locus in a minority of additional tumors (14 of 77, 17%). The somatic mutations were distributed across the entire gene, and the majority resulted in frameshifts that are predicted to truncate the BHD protein. These results support a role for BHD as a tumor suppressor gene that predisposes to the development of renal tumors when both copies are inactivated.

Original languageEnglish (US)
Pages (from-to)931-935
Number of pages5
JournalJournal of the National Cancer Institute
Volume97
Issue number12
DOIs
StatePublished - Jun 2005
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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