Urinary bladder cancer (UBC) is a common disease, which has a significant impact on patients due to the extremely high risk of multiple recurrences. A positive family history doubles the risk for UBC and suggests a role for germline, genetic variants in the etiology of UBC.
With support of the Dutch Cancer Society, Bart Kiemeney (Dept. of Health Evidence), Roland Kuiper (Dept. of Human Genetics) and Sita Vermeulen (Dept. of Health Evidence) aim to identify rare, high-penetrance germline mutations predisposing to (familial) UBC. Peripheral blood DNA from a stringent selection of multiplex UBC families, as well as all extremely young Dutch UBC patients diagnosed in the last 25 years and their parents will be collected and analyzed by exome sequencing.
For the latter, by comparing the exomes of each trio, the investigators hope to identify novel rare high-risk variants that explain the onset of UBC at extremely young age.
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