ID
45556
Beschrijving
Principal Investigator: Barry S. Taylor, PhD, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA MeSH: Ureteral Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000706 Outlier analyses represent a versatile method to identify predictive biomarkers of response to both targeted agents and chemotherapy. We performed whole genome sequencing (WGS) of tumor and germline blood from a patient with metastatic small cell carcinoma of the ureter who experienced a durable complete response to a combination of irinotecan plus AZD7762, a checkpoint kinase inhibitor. The patient initially had resection of the ureter followed by metastatic recurrence within the kidney and lymph nodes and underwent nephrectomy with lymph node dissection. Through WGS of tissue from the second surgery, we detected a hypomorphic L1237F mutation within RAD50, a component of the Mre11 double strand break repair complex, which resulted in heightened sensitivity to the combination of checkpoint inhibition and clastogenic chemotherapy. We validated the WGS findings using a combination of an exon capture assay and validation in model systems. The tumor samples sequenced by exon capture were derived from tissue taken from both the initial and second surgeries.
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Versies (1)
- 10-01-23 10-01-23 - Chiara Middel
Houder van rechten
Barry S. Taylor, PhD, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA
Geüploaded op
10 januari 2023
DOI
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Licentie
Creative Commons BY 4.0
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dbGaP phs000706 RAD50 Hypomorphism as Basis for Response to Chemotherapy
Subject ID, consent group, subject source, and subject source ID of subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
- StudyEvent: SEV1
- Subject ID, consent group, subject source, and subject source ID of subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
- Subject ID and sex of subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type of sample, primary tumor or metastasis, primary tumor location, tumor stage, and tumor treatment of subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
Similar models
Subject ID, consent group, subject source, and subject source ID of subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
- StudyEvent: SEV1
- Subject ID, consent group, subject source, and subject source ID of subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
- Subject ID and sex of subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type of sample, primary tumor or metastasis, primary tumor location, tumor stage, and tumor treatment of subject with ureteral neoplasm and involved in the "Genome Sequencing Reveals That RAD50 Hypomorphism Results in Enhanced Sensitivity to Checkpoint Kinase Inhibition Combined with Chemotherapy" project.
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