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Approved Research

Germline risk prediction model in bladder cancer: Whole Genome Sequencing of UK Biobank

Principal Investigator: Dr Laura Bukavina
Approved Research ID: 82664
Approval date: April 6th 2022

Lay summary

The aim of this project is to identify difference in genetic expression between individuals who develop bladder cancer and those who did not. By identifying certain genetic signatures among the people with bladder cancer, we can understand what specific signatures predispose to the development of bladder cancer. We know that certain familial genetic variant predispose to development of bladder cancer, but as we have had limited access to population wide genomic information, limited information is available outside of the common variants.

Furthermore, once we identify these abnormal signatures, we can then work further by focusing on the mechanism that these signatures may promote bladder cancer and ways to target these mechanisms with medications or therapy.

We anticipate this project to take 12-18 months. The anticipate public health impact will include understanding germline mutations that might be passed down among family members, thus initiating proper surveillance for development of bladder cancer, or other concomitant cancers . Furthermore, once we understand the familial mutations, goal directed therapy incorporating that specific genetic mutation can be further explored.