DCLRE1B/Apollo germline mutations associated with renal cell carcinoma

Highlights of Bories et al. article submitted to BBA - Molecular Basis of Disease: We identified 2 germline mutations in the DCLRE1B gene encoding the Apollo protein by Whole Exome Sequencing (WES) in two families with inherited clear-cell Renal Cell Carcinoma. Our study suggests a putative link between DNA repair, telomere protection and renal oncogenesis.

Type: Exome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD50000000311	We identified 2 germline mutations in the DCLRE1B gene encoding the Apollo protein by Whole Exome Sequencing (WES) in two families with inherited clear-cell Renal Cell Carcinoma. The raw data submitted here corresponds to WES performed on Genomic Platform at Gustave Roussy Institute.	Illumina NovaSeq 6000	5