Article
Recurrent exon-deleting activating mutations in AHR act as drivers of urinary tract cancer.
Scientific reports - 16 Jun 2022
Vlaar Judith M, Borgman Anouska, Kalkhoven Eric, Westland Denise, Besselink Nicolle, Shale Charles, Faltas Bishoy M, Priestley Peter, Kuijk Ewart, Cuppen Edwin
Abstract excerpt
Bladder cancer has a high recurrence rate and low survival of advanced stage patients. Few genetic drivers of bladder cancer have thus far been identified. We performed in-depth structural variant analysis on whole-genome sequencing data of 206 metastasized urinary tract cancers. In ~ 10% of the patients, we identified recurrent in-frame deletions of exons 8 and 9 in the aryl hydrocarbon receptor gene (AHRΔe8-9),...
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