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...
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 |
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Format: | Article |
Language: | English |
Published: |
Wiley
2023-02-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.2098 |
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