CLINICAL UTILITY OF GENOMIC PROFILING: A study of testicular cancer has highlighted the utility of genomics by demonstrating how complex genomic signatures can be used to predict response to chemotherapy

Kevin Sovet

May 18, 2020

SCIENTIFIC

CLINICAL UTILITY OF GENOMIC PROFILING:

A study of testicular cancer has highlighted the utility of genomics by demonstrating how complex genomic signatures can be used to predict response to chemotherapy. Unlocking this information requires comprehensive profiling including small variants, copy number, structural variants and mutational signatures.

 

Genomic landscape of platinum resistant and sensitive testicular cancers

Nature Communications volume 11, Article number: 2189 (2020) 

 

Abstract

While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 tumours from 26 cases with platinum-resistant TGCT, and combine this with published genomic data on an additional 624 TGCTs. We integrate analyses for driver mutations, mutational burden, global, arm-level and focal copy number (CN) events, and SNV and CN signatures. Albeit preliminary and observational in nature, these analyses provide support for a possible mechanistic link between early driver mutations in RAS and KIT and the widespread copy number events by which TGCT is characterised.

 

more info : https://www.nature.com/articles/s41467-020-15768-x#citeas