ID
45536
Description
Principal Investigator: Dmitry A. Gordenin, PhD, National Institute of Environmental Health Sciences (NIEH, DHHS), Research Triangle Park, NC, USA MeSH: Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000677 *Reprinted from Roberts et al. "An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers", Nature Genetics, 45:970-976, 2013, with permission of Nature Publishing Group:* Recent studies indicate that a subclass of APOBEC cytidine deaminases, which convert cytosine to uracil during RNA editing and retrovirus or retrotransposon restriction, may induce mutation clusters in human tumors. We show here that throughout cancer genomes APOBEC-mediated mutagenesis is pervasive and correlates with APOBEC mRNA levels. Mutation clusters in whole-genome and exome data sets conformed to the stringent criteria indicative of an APOBEC mutation pattern. Applying these criteria to 954,247 mutations in 2,680 exomes from 14 cancer types, mostly from The Cancer Genome Atlas (TCGA), showed a significant presence of the APOBEC mutation pattern in bladder, cervical, breast, head and neck, and lung cancers, reaching 68% of all mutations in some samples. Within breast cancer, the HER2-enriched subtype was clearly enriched for tumors with the APOBEC mutation pattern, suggesting that this type of mutagenesis is functionally linked with cancer development. The APOBEC mutation pattern also extended to cancer-associated genes, implying that ubiquitous APOBEC-mediated mutagenesis is carcinogenic.
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- 12/29/22 12/29/22 - Simon Heim
Copyright Holder
Dmitry A. Gordenin, PhD, National Institute of Environmental Health Sciences (NIEH, DHHS), Research Triangle Park, NC, USA
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December 29, 2022
DOI
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Creative Commons BY 4.0
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dbGaP phs000677 An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers
Subject ID, sample ID, and sample use variable obtained from participants with cancer and involved in the "An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers" project.
- StudyEvent: SEV1
- Subject ID, sample ID, and sample use variable obtained from participants with cancer and involved in the "An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers" project.
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with cancer and involved in the "An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers" project.
- Sample ID, body site where sample was collected, analyte type, and tumor status of participants with cancer and involved in the "An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers" project.
Similar models
Subject ID, sample ID, and sample use variable obtained from participants with cancer and involved in the "An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers" project.
- StudyEvent: SEV1
- Subject ID, sample ID, and sample use variable obtained from participants with cancer and involved in the "An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers" project.
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with cancer and involved in the "An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers" project.
- Sample ID, body site where sample was collected, analyte type, and tumor status of participants with cancer and involved in the "An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers" project.
C0441833 (UMLS CUI [1,2])
C0242481 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])