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Article

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

Journal of medical genetics - 1 Jun 2010

Nahorski Michael S, Lim Derek H K, Martin Lynn, Gille Johan J P, McKay Kirsten, Rehal Pauline K, Ploeger H Martijn, van Steensel Maurice, Tomlinson Ian P, Latif Farida, Menko Fred H, Maher Eamonn R

Abstract excerpt

BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant multisystem disorder with skin (fibrofolliculomas or trichodiscomas), lung (cysts and pneumothorax) and kidney (renal cell carcinoma) tumours. Although colorectal neoplasia was reported initially to be part of the BHD phenotype, some recent studies have not confirmed this association. METHODS A series of clinical and laboratory studies was...

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Source

Identifiers

PMID: 20522427
DOI: 10.1136/jmg.2009.073304

Genes

FLCN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.PMID 20522427Read ↗

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Clinical and genetic studies of Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.Semantic proximity Read ↗

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Identification and characterization of Birt-Hogg-Dubé associated renal carcinoma.Semantic proximity Read ↗

No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndromeSemantic proximity Read ↗

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Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer.Semantic proximity Read ↗

A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.Semantic proximity Read ↗

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.Semantic proximity Read ↗

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