Concurrent RB1 and CDKN1A/p21(WAF1) truncating mutations (RW+) in bladder cancer show distinct genomic and immunological profiles suggestive of therapeutic strategies

Authors:

Wafik S. El-Deiry, Taylor Arnoff, Benedito A. Carneiro, Andre DeSouza, Ali Amin, Howard Safran, Elisabeth I. Heath, Monika Joshi, Dragan Golijanin, Sheldon L. Holder, Anthony E. Mega, Moh’d M. Khushman, Sourat Darabi, Emmanuel S. Antonarakis, Anwaar Saeed, Emil Lou, Alex Farrell, Jun Yin, Elizabeth R. Plimack, Rana R. McKay

Key Finding:

  • Bladder carcinomas with concurrent truncating mutations in RB1 and CDKN1A have a distinct immunological profile and are enriched for mutations associated with benefit from inhibition of Chk1/Wee1, PARP, and immune checkpoint proteins. 
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