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  • Oncogenomics
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Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2


Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant neoplasia syndrome characterized mainly by benign skin tumors, and to a lesser extent, renal tumors and spontaneous pneumothorax. To map the BHD locus, we performed a genome-wide linkage analysis using polymorphic microsatellite markers on a large Swedish BHD family. Evidence of linkage was identified on chromosome 17p12-q11.2, with a maximum LOD score of 3.58 for marker D17S1852. Further haplotype analysis defined a 35 cM candidate interval between the two flanking markers, D17S1791 and D17S798. This information will facilitate the identification of the BHD gene, leading to the understanding of its underlying molecular etiology.

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This work was supported in part by the Swedish Cancer Society. We thank Dr László Bense for clinical information and contacting members of this family. We thank the family members for their cooperation in this study. We also thank Ulla Grandell, Dr James Resau, and Eric Hudson for technical help.

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Correspondence to Magnus Nordenskjöld.

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Khoo, S., Bradley, M., Wong, F. et al. Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene 20, 5239–5242 (2001).

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