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Mutations of the Birt-Hogg-Dubé (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability

J-H Shin¹, Y-K Shin¹, J-L Ku¹, S-Y Jeong², S-H Hong¹, S-Y Park², W-H Kim³, J-G Park^1,2

¹ Laboratory of Cell Biology, Cancer Research Institute and Cancer Research Centre, Seoul National University College of Medicine, Seoul 110-744, Korea
² Research Institute and Hospital, National Cancer Centre, Goyang, Gyeonggi 411-764, Korea
³ Department of Pathology, Seoul National University College of Medicine, Seoul 110-744, Korea

Correspondence to:
Correspondence to:
Dr J-G Park, National Cancer Centre, 809 Madu-dong, Ilsan-gu, Goyang, Gyeonggi 411-764, Korea;
park@ncc.re.kr

Keywords: Birt-Hogg-Dubé syndrome; colorectal cancer; microsatellite instability

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

Birt-Hogg-Dubé (BHD) syndrome, an inherited autosomal genodermatosis characterised by benign tumours of the hair follicle, is associated with renal neoplasia, lung cysts, and spontaneous pneumothorax.¹ The novel causative gene, identified by linkage analysis in BHD families, is localised on chromosome 17p11.2.² Protein truncating germinal mutations within a hypermutable (C)₈ tract occur in patients with BHD syndrome and lead to an increased risk of kidney cancer.³

Microsatellite repeats are widely distributed throughout the genome. Owing to a defect in the DNA mismatch repair gene, a subset of tumours accumulates frequent deletion and insertion mutations in these repetitive DNA sequences.^4–6 Most microsatellite instability (MSI) has so far been described in non-coding DNA within introns of intergenic regions in the genome. However, in some cancer related genes and mismatch repair genes, MSI has been identified in protein coding regions. The first target sequence identified within a coding region was a poly (A)₁₀ nucleotide . . . [Full text of this article]

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