Article
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.
Molecular genetics & genomic medicine - 1 Feb 2023
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
Abstract excerpt
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 and Li-Fraumeni syndrome. The corresponding genes (FLCN and TP53) are both located on the short arm of chromosome 17....
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