Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2005 Jun 15;97(12):931-5.
doi: 10.1093/jnci/dji154.

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

Cathy D Vocke  1 , 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
Affiliations

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

Cathy D Vocke et al. J Natl Cancer Inst. .

Erratum in

  • J Natl Cancer Inst. 2005 Jul 20;97(14):1096

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.

PubMed Disclaimer

Publication types