Shallow Whole Genome Sequencing of Patient Derived Xenografts
Chemotherapy is the standard-of-care treatment for metastatic colorectal cancer (mCRC) and benefits some patients, but what distinguishes responders from non-responders is unclear. In this study, we leveraged a comprehensive collection of 27 molecularly annotated patient-derived xenografts to uncover functional predictors of response to 5-FU and irinotecan combination therapy (FOLFIRI) in mCRC. Genetic analyses revealed that treatment sensitivity was marked by genomic scars indicative of BRCAness, suggesting homologous recombination (HR) deficiency as a key determinant. Accordingly, we surveyed a manually curated panel of 44 genes with a documented role in HR for the potential presence of pathogenic mutations. We did not observe a specific enrichment of HR gene mutations based on response to FOLFIRI. This result, combined with the absence of widespread biallelic inactivation of the analyzed genes and the predominance of mutations categorized as variants of unknown significance, suggests that FOLFIRI sensitivity is not primarily governed by underlying mutations in HR genes responsible for mitigating the genotoxic effects of this therapeutic regimen.
- 19/02/2024
- 27 samples
- DAC: EGAC50000000068
- Technology: unspecified
General policy for IRCC datasets
Translational Cancer Medicine laboratory of Candiolo IRCC institute. Dataset available on request
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
Study ID | Study Title | Study Type |
---|---|---|
EGAS50000000191 | Whole Genome Sequencing |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
ID | File Type | Size | Located in | |
---|---|---|---|---|
EGAF50000084741 | fastq.gz | 925.6 MB | ||
EGAF50000084742 | fastq.gz | 952.4 MB | ||
EGAF50000084743 | fastq.gz | 905.8 MB | ||
EGAF50000084744 | fastq.gz | 938.6 MB | ||
EGAF50000084745 | fastq.gz | 963.5 MB | ||
EGAF50000084746 | fastq.gz | 984.2 MB | ||
EGAF50000084747 | fastq.gz | 996.9 MB | ||
EGAF50000084748 | fastq.gz | 1.0 GB | ||
EGAF50000084749 | fastq.gz | 958.6 MB | ||
EGAF50000084750 | fastq.gz | 980.3 MB | ||
EGAF50000084751 | fastq.gz | 847.6 MB | ||
EGAF50000084752 | fastq.gz | 869.6 MB | ||
EGAF50000084753 | fastq.gz | 900.7 MB | ||
EGAF50000084754 | fastq.gz | 927.3 MB | ||
EGAF50000084755 | fastq.gz | 995.7 MB | ||
EGAF50000084756 | fastq.gz | 1.0 GB | ||
EGAF50000084757 | fastq.gz | 966.5 MB | ||
EGAF50000084758 | fastq.gz | 990.7 MB | ||
EGAF50000084759 | fastq.gz | 962.9 MB | ||
EGAF50000084760 | fastq.gz | 987.7 MB | ||
EGAF50000084761 | fastq.gz | 970.8 MB | ||
EGAF50000084762 | fastq.gz | 938.5 MB | ||
EGAF50000084763 | fastq.gz | 846.8 MB | ||
EGAF50000084764 | fastq.gz | 876.4 MB | ||
EGAF50000084765 | fastq.gz | 1.0 GB | ||
EGAF50000084766 | fastq.gz | 1.0 GB | ||
EGAF50000084767 | fastq.gz | 936.2 MB | ||
EGAF50000084768 | fastq.gz | 962.2 MB | ||
EGAF50000084769 | fastq.gz | 946.0 MB | ||
EGAF50000084770 | fastq.gz | 964.4 MB | ||
EGAF50000084771 | fastq.gz | 1.0 GB | ||
EGAF50000084772 | fastq.gz | 1.0 GB | ||
EGAF50000084773 | fastq.gz | 962.4 MB | ||
EGAF50000084774 | fastq.gz | 979.5 MB | ||
EGAF50000084775 | fastq.gz | 950.1 MB | ||
EGAF50000084776 | fastq.gz | 982.3 MB | ||
EGAF50000084777 | fastq.gz | 1.0 GB | ||
EGAF50000084778 | fastq.gz | 1.0 GB | ||
EGAF50000084779 | fastq.gz | 908.1 MB | ||
EGAF50000084780 | fastq.gz | 880.6 MB | ||
EGAF50000084781 | fastq.gz | 924.3 MB | ||
EGAF50000084782 | fastq.gz | 893.7 MB | ||
EGAF50000084783 | fastq.gz | 928.7 MB | ||
EGAF50000084784 | fastq.gz | 969.0 MB | ||
EGAF50000084785 | fastq.gz | 986.7 MB | ||
EGAF50000084786 | fastq.gz | 1.0 GB | ||
EGAF50000084787 | fastq.gz | 984.2 MB | ||
EGAF50000084788 | fastq.gz | 995.4 MB | ||
EGAF50000084789 | fastq.gz | 889.7 MB | ||
EGAF50000084790 | fastq.gz | 909.6 MB | ||
EGAF50000084791 | fastq.gz | 992.3 MB | ||
EGAF50000084792 | fastq.gz | 1.0 GB | ||
EGAF50000084793 | fastq.gz | 943.7 MB | ||
EGAF50000084794 | fastq.gz | 978.5 MB | ||
54 Files (51.8 GB) |