Detection of Molecular Signatures of Homologous Recombination Deficiency in Bladder Cancer.

ABSTRACT:

Purpose

Poly (ADP ribose)-polymerase (PARP) inhibitors are approved for use in breast, ovarian, prostate, and pancreatic cancers, which are the solid tumor types that most frequently have alterations in key homologous recombination (HR) genes, such as BRCA1/2. However, the frequency of HR deficiency (HRD) in other solid tumor types, including bladder cancer, is less well characterized.

Experimental design

Specific DNA aberration profiles (mutational signatures) are induced by HRD, and the presence of these "genomic scars" can be used to assess the presence or absence of HRD in a given tumor biopsy even in the absence of an observed alteration of an HR gene. Using whole-exome and whole-genome data, we measured various HRD-associated mutational signatures in bladder can

SUBMITTER: Borcsok J 

PROVIDER: S-EPMC8896908 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature