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Characterization of mutational signatures in human cancer cell lines reveals episodic APOBEC mutagenesis

Multiple signatures of somatic mutations have been identified in human cancer genomes. To investigate whether mutational signatures continue to be generated, and if so their temporal patterns of activity, subsets of cell lines were cultured in vitro for extended periods and subjected to single cell cloning and whole genome or exome sequencing or directly to single cell whole genome sequencing. As expected, signatures of past exogenous exposures, such as tobacco smoke and ultraviolet light, were not generated in vitro. In contrast, signatures of normal and defective DNA repair and replication continued to be generated at essentially constant mutation rates. Signatures of APOBEC cytidine deaminase DNA-editing activity exhibited a distinctive pattern with substantial fluctuations in mutation rate over time and episodic bursts of mutations. The initiating factors for these bursts are unclear although retrotransposon mobilisation may play a role. This cell line set now constitutes a comprehensive resource of live experimental models of mutational processes of both known and unknown aetiologies potentially retaining the patterns of activity and regulatory influences operative in human cells in vivo.

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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
EGAS00001000196 Cancer Genomics
EGAS00001000790 Cancer Genomics
EGAS00001000978 Cancer Genomics

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
EGAF00000056221 bam 12.7 GB
EGAF00000642995 bam 3.7 GB
EGAF00000643493 bam 4.3 GB
EGAF00000643499 bam 4.2 GB
EGAF00000643759 bam 2.6 GB
EGAF00000643767 bam 2.6 GB
EGAF00000644008 bam 3.1 GB
EGAF00000644016 bam 3.0 GB
EGAF00000644102 bam 5.6 GB
EGAF00000644326 bam 3.9 GB
EGAF00000644363 bam 4.3 GB
EGAF00000644580 bam 4.7 GB
EGAF00000660620 bam 3.8 GB
EGAF00000660716 bam 5.9 GB
EGAF00000660723 bam 5.8 GB
EGAF00000660782 bam 6.1 GB
EGAF00000660785 bam 6.3 GB
EGAF00000660788 bam 6.4 GB
EGAF00001767459 cram 2.6 GB
EGAF00001767460 cram 2.9 GB
EGAF00001767461 cram 3.1 GB
EGAF00001767462 cram 2.9 GB
EGAF00001767463 cram 3.0 GB
EGAF00001767464 cram 3.0 GB
EGAF00001767465 cram 3.5 GB
EGAF00001767466 cram 3.1 GB
EGAF00001767467 cram 3.9 GB
EGAF00001767468 cram 3.2 GB
EGAF00001767469 cram 1.7 GB
EGAF00001767470 cram 1.8 GB
EGAF00001767471 cram 2.0 GB
EGAF00001767472 cram 2.0 GB
EGAF00001767473 cram 2.2 GB
EGAF00001767474 cram 2.1 GB
EGAF00001767475 cram 2.3 GB
EGAF00001767476 cram 2.0 GB
EGAF00001767477 cram 2.3 GB
EGAF00001767478 cram 2.3 GB
EGAF00001767479 cram 2.3 GB
EGAF00001767480 cram 3.1 GB
EGAF00001767481 cram 2.1 GB
EGAF00001767482 cram 1.8 GB
EGAF00001767483 cram 2.2 GB
EGAF00001767484 cram 1.9 GB
EGAF00001767485 cram 2.3 GB
EGAF00001767486 cram 3.2 GB
EGAF00001767487 cram 2.2 GB
EGAF00001767517 cram 1.8 GB
EGAF00001767518 cram 2.2 GB
EGAF00001767519 cram 2.0 GB
EGAF00001767520 cram 2.0 GB
EGAF00001767521 cram 2.1 GB
EGAF00001767522 cram 2.2 GB
EGAF00001767523 cram 2.2 GB
EGAF00001767524 cram 2.0 GB
EGAF00001767525 cram 1.9 GB
EGAF00001767526 cram 1.9 GB
EGAF00001767527 cram 2.0 GB
EGAF00001767528 cram 2.2 GB
EGAF00001767529 cram 2.2 GB
EGAF00001767530 cram 1.9 GB
EGAF00001767531 cram 1.9 GB
EGAF00001767532 cram 2.0 GB
EGAF00001767533 cram 2.1 GB
EGAF00001767534 cram 2.1 GB
EGAF00001767535 cram 2.2 GB
EGAF00001767536 cram 2.0 GB
EGAF00001767537 cram 2.2 GB
EGAF00001767538 cram 2.0 GB
EGAF00001767539 cram 2.1 GB
EGAF00001767540 cram 2.5 GB
EGAF00001767541 cram 2.5 GB
EGAF00001767542 cram 2.0 GB
EGAF00001767543 cram 2.1 GB
EGAF00001767544 cram 2.0 GB
EGAF00001767545 cram 2.0 GB
EGAF00001767575 cram 2.4 GB
EGAF00001767576 cram 2.4 GB
EGAF00001767577 cram 1.9 GB
EGAF00001767578 cram 1.9 GB
EGAF00001767579 cram 2.3 GB
EGAF00001767580 cram 2.2 GB
EGAF00001767581 cram 2.0 GB
EGAF00001767582 cram 2.3 GB
EGAF00001767583 cram 2.2 GB
EGAF00001767584 cram 2.0 GB
EGAF00001767585 cram 2.7 GB
EGAF00001767586 cram 2.1 GB
EGAF00001767587 cram 2.7 GB
EGAF00001767588 cram 2.1 GB
EGAF00001767589 cram 2.0 GB
EGAF00001767590 cram 2.4 GB
EGAF00001767591 cram 2.1 GB
EGAF00001767592 cram 2.0 GB
EGAF00001767593 cram 2.4 GB
EGAF00001767594 cram 2.1 GB
EGAF00001767595 cram 2.1 GB
EGAF00001767596 cram 2.3 GB
EGAF00001767597 cram 2.1 GB
EGAF00001767598 cram 2.1 GB
EGAF00001767599 cram 2.2 GB
EGAF00001767600 cram 2.1 GB
EGAF00001767601 cram 1.7 GB
EGAF00001767602 cram 1.5 GB
EGAF00001767603 cram 1.4 GB
EGAF00001767634 cram 1.7 GB
EGAF00001767635 cram 1.7 GB
EGAF00001767636 cram 1.5 GB
EGAF00001767637 cram 1.4 GB
EGAF00001767638 cram 1.7 GB
EGAF00001767639 cram 3.0 GB
EGAF00001767640 cram 2.6 GB
EGAF00001767641 cram 2.9 GB
EGAF00001767642 cram 2.5 GB
EGAF00001767643 cram 2.0 GB
EGAF00001767644 cram 2.1 GB
EGAF00001767645 cram 2.0 GB
EGAF00001767646 cram 2.1 GB
EGAF00001767647 cram 1.9 GB
EGAF00001767648 cram 1.9 GB
EGAF00001767649 cram 1.8 GB
EGAF00001768451 cram 2.0 GB
EGAF00001768452 cram 2.0 GB
EGAF00001768453 cram 1.8 GB
124 Files (323.1 GB)