Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors

Abstract Background We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited tumor predisposition syndromes in all three family members: Birt‐Hogg‐Dubé syndrome a...

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Bibliographic Details
Main Authors: Irma van deBeek, Iris E. Glykofridis, Anja Wagner, Dorine T. denToom, Ernie M. H. F. Bongers, Geert J. L. H. vanLeenders, Paul C. Johannesma, Hanne E. J. Meijers‐Heijboer, Rob M. F. Wolthuis, Maurice A. M. vanSteensel, Hendrikus J. Dubbink, Arjan C. Houweling
Format: Article
Language:English
Published: Wiley 2023-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Birt‐Hogg‐Dubé syndrome
Li‐Fraumeni syndrome
loss of heterozygosity
renal cell carcinoma
Online Access:https://doi.org/10.1002/mgg3.2098

Internet

https://doi.org/10.1002/mgg3.2098

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