TY - JOUR
T1 - High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors
AU - Vocke, Cathy D.
AU - Yang, Youfeng
AU - Pavlovich, Christian P.
AU - Schmidt, Laura S.
AU - Nickerson, Michael L.
AU - Torres-Cabala, Carlos A.
AU - Merino, Maria J.
AU - Walther, McClellan M.
AU - Zbar, Berton
AU - Linehan, W. Marston
PY - 2005/6
Y1 - 2005/6
N2 - 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.
AB - 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.
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U2 - 10.1093/jnci/dji154
DO - 10.1093/jnci/dji154
M3 - Article
C2 - 15956655
AN - SCOPUS:21444432561
VL - 97
SP - 931
EP - 935
JO - Journal of the National Cancer Institute
JF - Journal of the National Cancer Institute
SN - 0027-8874
IS - 12
ER -