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

• Main Authors: van de Beek, Irma, Glykofridis, Iris E., Wagner, Anja, den Toom, Dorine T., Bongers, Ernie M. H. F., van Leenders, Geert J. L. H., Johannesma, Paul C., Meijers-Heijboer, Hanne E. J., Wolthuis, Rob M. F., van Steensel, Maurice A. M., Dubbink, Hendrikus J., Houweling, Arjan C.
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2023
• Subjects: Science; Brain Neoplasms; Carcinoma, Renal Cell
• Online Access: https://hdl.handle.net/10356/170845
• Institution: Nanyang Technological University

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 and Li-Fraumeni syndr...