Lung cancer HR
A subset of lung cancer cases shows robust signs of homologous recombination deficiency associated genomic mutational signatures.
The project investigated the occurrence of homologous recombination deficiency in non small cell lung cancer cohorts. Although the majority of our samples were collected from the TCGA, we have found one patient with squamous cell carcinoma who responded exceptionally well to platinum therapy. WGS analysis of the tumor revealed a somatic pathogenic mutation in BRCA2 which was coupled with an LOH, rendering the gene and the HR pathway ineffective in the tumor.
The project investigated the occurrence of homologous recombination deficiency in non small cell lung cancer cohorts. Although the majority of our samples were collected from the TCGA, we have found one patient with squamous cell carcinoma who responded exceptionally well to platinum therapy. WGS analysis of the tumor revealed a somatic pathogenic mutation in BRCA2 which was coupled with an LOH, rendering the gene and the HR pathway ineffective in the tumor.