ID
45870
Descrição
Principal Investigator: Jennifer Grandis, MD, University of California, San Francisco, CA, USA MeSH: Carcinoma, squamous cell of head and neck https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001007 Recurrence and/or metastasis occur in more than half of patients with head and neck squamous cell carcinoma (HNSCC) and pose the greatest threats to long-term survival. The genetic alterations underlying recurrent/metastatic HNSCC are unknown. This study represents the first whole exome sequencing (WES) cohort study of patient-matched tumor pairs in recurrent or metastatic HNSCC. Synchronous lymph node metastases are genetically more similar to their paired index primary tumors than metachronous recurrent tumors are. Newly arisen mutations in recurrent or metastatic tumors, may have therapeutic implications. Several genes were found to be mutated in multiple metastatic or recurrent tumors, but not in their respective primaries, including C17orf104, ITPR3, and DDR2. DDR2 mutations have been shown to confer enhanced sensitivity to Src-family kinase (SFK) inhibitors in other malignancies. Similarly, we found HNSCC cell lines harboring endogenous and engineered DDR2 mutations to be more sensitive to the SFK inhibitor dasatinib, than those with WT DDR2. This study outlines the first compendium of somatic mutations in primary, metastatic and/or recurrent HNSCC cancers that arise in individual patients; and demonstrates how such data can be used to interrogate potential predictive/prognostic biomarkers to inform and guide personalized therapy.
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Versões (1)
- 26/10/2023 26/10/2023 - Simon Heim
Titular dos direitos
Jennifer Grandis, MD, University of California, San Francisco, CA, USA
Transferido a
26 de outubro de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001007 The Genetic Landscape of Metastasis and Recurrence in HNSCC
The subject consent file includes subject IDs, consent information, subject aliases and affection status for case control status of the subject. All subjects are patients with metastatic and/or recurrent head and neck squamous cell carcinoma.
- StudyEvent: SEV1
- The subject consent file includes subject IDs, consent information, subject aliases and affection status for case control status of the subject. All subjects are patients with metastatic and/or recurrent head and neck squamous cell carcinoma.
- This subject sample mapping data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table contains de-identified Subject ID, gender, age, and tumor stage of the subject.
- This sample attributes table contains de-identified Sample ID, body site where sample was collected, analyte type, tumor status, histological type, primary tumor, metastasis, or transformed cell line, primary tumor location, tumor stage and grade, type of tumor treatment, and names of the center which conducted genotyping and sequencing.
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The subject consent file includes subject IDs, consent information, subject aliases and affection status for case control status of the subject. All subjects are patients with metastatic and/or recurrent head and neck squamous cell carcinoma.
- StudyEvent: SEV1
- The subject consent file includes subject IDs, consent information, subject aliases and affection status for case control status of the subject. All subjects are patients with metastatic and/or recurrent head and neck squamous cell carcinoma.
- This subject sample mapping data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table contains de-identified Subject ID, gender, age, and tumor stage of the subject.
- This sample attributes table contains de-identified Sample ID, body site where sample was collected, analyte type, tumor status, histological type, primary tumor, metastasis, or transformed cell line, primary tumor location, tumor stage and grade, type of tumor treatment, and names of the center which conducted genotyping and sequencing.
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C0449416 (UMLS CUI [1,3])