Charlie Bories, Thomas Lejour, Florine Adolphe, Laëtitia Kermasson, Sophie Couvé, Laura Tanguy, Gabriela Luszczewska, Manon Watzky, Victoria Poillerat, Pauline Garnier, Regina Groisman, Sophie Ferlicot, Stéphane Richard, Murat Saparbaev, Patrick Revy, Sophie Gad, Flore Renaud
Hereditary renal cell carcinoma (RCC) is caused by germline mutations in a subset of genes, including VHL, MET, FLCN, and FH. However, many familial RCC cases do not harbor mutations in the known predisposition genes. Using Whole Exome Sequencing, we identified two germline missense variants in the DCLRE1B/Apollo gene (ApolloN246I and ApolloY273H ) in two unrelated families with several RCC cases. Apollo encodes an exonuclease involved in DNA Damage Response and Repair (DDRR) and telomere integrity. We characterized these two functions in the human renal epithelial cell line HKC8...
February 29, 2024: Biochimica et Biophysica Acta. Molecular Basis of Disease