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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F12%3A10124458" target="_blank" >RIV/00216208:11140/12:10124458 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1111/j.1442-2042.2011.02945.x" target="_blank" >http://dx.doi.org/10.1111/j.1442-2042.2011.02945.x</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/j.1442-2042.2011.02945.x" target="_blank" >10.1111/j.1442-2042.2011.02945.x</a>

Result language
angličtina
Original language name
FLCN gene-mutated renal cell neoplasms: Mother and daughter cases with a novel germline mutation
Original language description
Birt-Hogg-Dube 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 daughter's tumor was a hybrid oncocytic/chromophobe tumor. The germline mutation analysis of the responsible gene, FCLN (the folliculin gene), showed a deletion of 18 bp in exon 5 (c.332_349del/p.H111_Q116del), predicting an alteration of the amino acid sequence of HPSHPQ replaced by a single amino acid, L. This is a novel germline mutation of the FCLN gene that has not been previously reported.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FP - Other medical fields
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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