LETTER TO JMG

Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours

K Kahnoski¹, S K Khoo¹, N T Nassif², J Chen¹, G P Lobo², E Segelov², B T Teh¹

¹ Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI-49503, USA
² Cancer Research Laboratories, South West Sydney Clinical School, University of New South Wales, Liverpool Hospital, Liverpool, NSW 2170, Australia

Correspondence to:
Correspondence to:
Dr N T Nassif, Department of Medicine, University of New South Wales, Level 4, Health Services Building, Cnr Goulburn & Campbell Streets, Liverpool, NSW 2170, Australia;
n.nassif@unsw.edu.auor
Dr B T Teh, Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI-49301, USA;
bin.teh@vai.org

Keywords: BHD; colorectal tumours; MSI; LOH

The first 150 words of the full text of this article appear below.

Colorectal cancer (CRC) is the third most common cancer diagnosed in both men and women, and the second most common cause of cancer deaths in the United States. There were approximately 150 000 new cases resulting in 57 000 deaths in 2002.¹ CRC is one of the most studied cancer types and its underlying aetiology best elucidated. Colorectal tumorigenesis involves a multistep process including genetic and epigenetic alterations of numerous CRC related genes that may act as either oncogenes or tumour suppressor genes.^2–5 The majority of sporadic CRCs are characterised by deletions of large chromosomal segments, which are thought to represent the loss of wild type tumour suppressor genes.^6,7 About 15% of sporadic CRCs, on the other hand, show microsatellite instability (MSI), characterised by the insertion and/or deletion of simple repeat sequences and indicative of the involvement of defective mismatch repair.^8,9

Birt-Hogg-Dubé syndrome (BHD, OMIM 135150) is an inherited autosomal . . . [Full text of this article]

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