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As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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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.

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DUO:0000007
version: 2021-02-23

disease specific research

This data use permission indicates that use is allowed provided it is related to the specified disease.

ModifiersMONDO:0005575

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 Quality Report
Located in
i
EGAF50000084741 fastq.gz 925.6 MB Report
EGAF50000084742 fastq.gz 952.4 MB Report
EGAF50000084743 fastq.gz 905.8 MB Report
EGAF50000084744 fastq.gz 938.6 MB Report
EGAF50000084745 fastq.gz 963.5 MB Report
EGAF50000084746 fastq.gz 984.2 MB Report
EGAF50000084747 fastq.gz 996.9 MB Report
EGAF50000084748 fastq.gz 1.0 GB Report
EGAF50000084749 fastq.gz 958.6 MB Report
EGAF50000084750 fastq.gz 980.3 MB Report
EGAF50000084751 fastq.gz 847.6 MB Report
EGAF50000084752 fastq.gz 869.6 MB Report
EGAF50000084753 fastq.gz 900.7 MB Report
EGAF50000084754 fastq.gz 927.3 MB Report
EGAF50000084755 fastq.gz 995.7 MB Report
EGAF50000084756 fastq.gz 1.0 GB Report
EGAF50000084757 fastq.gz 966.5 MB Report
EGAF50000084758 fastq.gz 990.7 MB Report
EGAF50000084759 fastq.gz 962.9 MB Report
EGAF50000084760 fastq.gz 987.7 MB Report
EGAF50000084761 fastq.gz 970.8 MB Report
EGAF50000084762 fastq.gz 938.5 MB Report
EGAF50000084763 fastq.gz 846.8 MB Report
EGAF50000084764 fastq.gz 876.4 MB Report
EGAF50000084765 fastq.gz 1.0 GB Report
EGAF50000084766 fastq.gz 1.0 GB Report
EGAF50000084767 fastq.gz 936.2 MB Report
EGAF50000084768 fastq.gz 962.2 MB Report
EGAF50000084769 fastq.gz 946.0 MB Report
EGAF50000084770 fastq.gz 964.4 MB Report
EGAF50000084771 fastq.gz 1.0 GB Report
EGAF50000084772 fastq.gz 1.0 GB Report
EGAF50000084773 fastq.gz 962.4 MB Report
EGAF50000084774 fastq.gz 979.5 MB Report
EGAF50000084775 fastq.gz 950.1 MB Report
EGAF50000084776 fastq.gz 982.3 MB Report
EGAF50000084777 fastq.gz 1.0 GB Report
EGAF50000084778 fastq.gz 1.0 GB Report
EGAF50000084779 fastq.gz 908.1 MB Report
EGAF50000084780 fastq.gz 880.6 MB Report
EGAF50000084781 fastq.gz 924.3 MB Report
EGAF50000084782 fastq.gz 893.7 MB Report
EGAF50000084783 fastq.gz 928.7 MB Report
EGAF50000084784 fastq.gz 969.0 MB Report
EGAF50000084785 fastq.gz 986.7 MB Report
EGAF50000084786 fastq.gz 1.0 GB Report
EGAF50000084787 fastq.gz 984.2 MB Report
EGAF50000084788 fastq.gz 995.4 MB Report
EGAF50000084789 fastq.gz 889.7 MB Report
EGAF50000084790 fastq.gz 909.6 MB Report
EGAF50000084791 fastq.gz 992.3 MB Report
EGAF50000084792 fastq.gz 1.0 GB Report
EGAF50000084793 fastq.gz 943.7 MB Report
EGAF50000084794 fastq.gz 978.5 MB Report
54 Files (51.8 GB)