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Article

FLCN gene-mutated renal cell neoplasms: mother and daughter cases with a novel germline mutation.

International journal of urology : official journal of the Japanese Urological Association - 1 May 2012

Nagashima Yoji, Furuya Mitsuko, Gotohda Hiroko, Takagi Seiji, Hes Ondrej, Michal Michal, Grossmann Petr, Tanaka Reiko, Nakatani Yukio, Kuroda Naoto

Abstract excerpt

Birt-Hogg-Dubé syndrome is a familial genodermatosis, of which patients frequently develop renal neoplasms, fibrofolliculomas and pneumatocele. Here, we report a mother and daughter with renal neoplasms surgically resected (69 and 46 years-of-age at surgery, respectively). The mother's tumor was diagnosed as an unclassified type renal cell carcinoma associated with microscopic tumorous nodules, whereas the...

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Source

Identifiers

PMID: 22211584
DOI: 10.1111/j.1442-2042.2011.02945.x

Genes

FLCN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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