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Article

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.

Genes, chromosomes & cancer - 1 Jun 2011

Benhammou Jihane N, Vocke Cathy D, Santani Avni, Schmidt Laura S, Baba Masaya, Seyama Kuniaki, Wu Xiaolin, Korolevich Susana, Nathanson Katherine L, Stolle Catherine A, Linehan W Marston

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHDS), caused by germline mutations in the folliculin (FLCN) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and kidney cancer. The FLCN mutation detection rate by bidirectional DNA sequencing in the National Cancer Institute BHDS cohort was 88%. To determine if germline FLCN intragenic deletions/duplications were responsible for...

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Identifiers

PMID: 21412933
DOI: 10.1002/gcc.20872
PMCID: PMC3075348

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.PMID 21412933Read ↗

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