^
Association details:
Biomarker:BRCA1 N1018fs*8
Cancer:Urothelial Cancer
Drug:Lynparza (olaparib) (PARP inhibitor)
Direction:Sensitive
Evidence:
Evidence Level:
Sensitive: C4 – Case Studies
New
Title:

Clinical Activity of Olaparib in Urothelial Bladder Cancer With DNA Damage Response Gene Mutations

Excerpt:
A frameshift truncating mutation was detected in BRCA1 (N1018fs*8), with a mutant allele frequency of 62%. This mutation is a known germline founder that originated in Sweden.17 Sequencing revealed additional genomic alterations, as listed in Table 1. Targeted testing for this BRCA1 alteration (Myriad Genetics, Salt Lake City, UT) performed on a buccal wash confirmed that it was a germline alteration. The patient started receiving olaparib in December 2016 and had a 53% reduction in the size of the lung nodule and periaortic node target lesions.
DOI:
10.1200/PO.18.00264