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Birt-Hogg-Dubé (BHD) gene mutations in human gastric cancer with high frequency microsatellite instability.

Cancer letters - 8 Apr 2007

Jiang Wenquan, Fujii Hiroaki, Matsumoto Toshiharu, Ohtsuji Naomi, Tsurumaru Masahiko, Hino Okio

Abstract excerpt

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by benign hamartomatous skin lesions and an increased risk of pneumothorax and renal tumors. Many of the patients harbor insertion/deletion mutations in the hypermutable poly(C)(8) tract in exon 11 of the BHD gene. This mutational hot spot is also reported to be a target of mutation in microsatellite instability (MSI) sporadic...

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Identifiers

PMID: 16870330
DOI: 10.1016/j.canlet.2006.06.005

Genes

BAX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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