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Somatic mutations, clonal architecture and genomic evolution in multiple myeloma

Multiple myeloma is an incurable plasma cell malignancy whose molecular pathogenesis is incompletely understood. We used whole exome sequencing, copy number profiling and cytogenetic to analyses 84 samples from 67 patients with myeloma. In addition to known myeloma genes, we identify new candidate genes, including truncations of SP140, ROBO1 and FAT3 and clustered missense mutations in EGR1. We find oncogenic mutations in cancer genes not previously implicated in myeloma, including SF3B1, PI3KCA and PTEN. We define diverse processes contributing to the mutational repertoire, including kataegis and somatic hypermutation. Most cases have at least one cluster of subclonal variants, including subclonal driver mutations, implying on-going tumor evolution. Serial samples revealed diverse patterns of clonal evolution, including linear evolution, differential clonal response and branching evolution. Our findings reveal the myeloma genome to be heterogeneous across patients and, within individual patients, to exhibit diversity in clonal admixture and dynamics in response to therapy.

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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
EGAS00001000036 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
EGAF00000076495 bam 8.1 GB
EGAF00000076496 bam 7.9 GB
EGAF00000076497 bam 8.1 GB
EGAF00000076498 srf 24.5 GB
EGAF00000076499 srf 24.2 GB
EGAF00000076501 bam 8.0 GB
EGAF00000076502 bam 13.5 GB
EGAF00000076503 bam 3.2 GB
EGAF00000076504 bam 6.8 GB
EGAF00000076505 srf 26.8 GB
EGAF00000076506 srf 24.5 GB
EGAF00000076507 srf 27.1 GB
EGAF00000076508 srf 27.5 GB
EGAF00000076509 bam 2.9 GB
EGAF00000076511 bam 13.4 GB
EGAF00000076512 bam 6.7 GB
EGAF00000076513 bam 7.5 GB
EGAF00000076514 bam 7.9 GB
EGAF00000076515 bam 3.4 GB
EGAF00000076517 bam 7.1 GB
EGAF00000076519 bam 7.9 GB
EGAF00000076521 srf 33.8 GB
EGAF00000076522 srf 34.3 GB
EGAF00000076523 bam 8.2 GB
EGAF00000076524 srf 29.5 GB
EGAF00000076525 srf 29.6 GB
EGAF00000076526 bam 8.2 GB
EGAF00000076528 bam 8.0 GB
EGAF00000076529 bam 7.0 GB
EGAF00000076532 bam 8.0 GB
EGAF00000076533 bam 8.6 GB
EGAF00000076534 bam 6.7 GB
EGAF00000076535 bam 13.9 GB
EGAF00000076536 srf 26.5 GB
EGAF00000076537 srf 26.6 GB
EGAF00000076538 bam 23.6 GB
EGAF00000076539 bam 7.5 GB
EGAF00000076540 bam 8.3 GB
EGAF00000076542 bam 12.0 GB
EGAF00000076543 bam 8.3 GB
EGAF00000076544 bam 8.1 GB
EGAF00000076545 bam 7.2 GB
EGAF00000076546 bam 7.9 GB
EGAF00000076547 srf 24.3 GB
EGAF00000076548 srf 24.2 GB
EGAF00000076549 srf 26.9 GB
EGAF00000076550 srf 27.2 GB
EGAF00000076551 bam 7.2 GB
EGAF00000076552 bam 9.2 GB
EGAF00000076554 bam 24.1 GB
EGAF00000076555 bam 7.7 GB
EGAF00000076556 bam 7.8 GB
EGAF00000076557 bam 8.8 GB
EGAF00000076558 bam 11.4 GB
EGAF00000076559 srf 33.8 GB
EGAF00000076560 srf 10.0 GB
EGAF00000076561 srf 19.4 GB
EGAF00000076562 srf 20.0 GB
EGAF00000076563 bam 13.7 GB
EGAF00000076564 bam 9.0 GB
EGAF00000076565 bam 8.4 GB
EGAF00000076566 srf 17.0 GB
EGAF00000076567 srf 17.6 GB
EGAF00000076568 bam 6.9 GB
EGAF00000076569 bam 8.1 GB
EGAF00000076570 bam 9.6 GB
EGAF00000076572 srf 30.1 GB
EGAF00000076573 srf 30.2 GB
EGAF00000076574 bam 7.6 GB
EGAF00000076575 bam 8.5 GB
EGAF00000076576 bam 7.8 GB
EGAF00000076577 bam 12.9 GB
EGAF00000076579 bam 14.1 GB
EGAF00000076580 bam 7.5 GB
EGAF00000076581 bam 14.8 GB
EGAF00000076582 bam 9.4 GB
EGAF00000076586 bam 8.3 GB
EGAF00000076587 bam 7.6 GB
EGAF00000076588 bam 3.2 GB
EGAF00000076589 bam 7.1 GB
EGAF00000076590 bam 7.3 GB
EGAF00000076591 srf 44.5 GB
EGAF00000076592 srf 44.7 GB
EGAF00000076593 bam 8.9 GB
EGAF00000076594 srf 34.8 GB
EGAF00000076595 srf 34.4 GB
EGAF00000076596 bam 7.1 GB
EGAF00000076597 bam 9.0 GB
EGAF00000076599 bam 7.5 GB
EGAF00000076600 bam 8.4 GB
EGAF00000076601 bam 13.3 GB
EGAF00000076602 bam 8.3 GB
EGAF00000076603 bam 8.2 GB
EGAF00000076604 bam 7.1 GB
EGAF00000076605 bam 10.1 GB
EGAF00000076606 bam 4.0 GB
EGAF00000076607 bam 20.4 GB
EGAF00000076608 bam 15.1 GB
EGAF00000076609 bam 8.2 GB
EGAF00000076610 srf 23.8 GB
EGAF00000076611 srf 22.3 GB
EGAF00000076613 bam 13.5 GB
EGAF00000076615 bam 8.0 GB
EGAF00000076616 bam 5.9 GB
EGAF00000076617 bam 11.1 GB
EGAF00000076618 bam 7.8 GB
EGAF00000076619 bam 8.1 GB
EGAF00000076620 srf 27.9 GB
EGAF00000076621 srf 27.5 GB
EGAF00000076622 bam 7.4 GB
EGAF00000076623 bam 14.4 GB
EGAF00000076624 srf 28.6 GB
EGAF00000076625 srf 27.6 GB
EGAF00000076626 srf 23.2 GB
EGAF00000076627 srf 23.1 GB
EGAF00000076628 bam 6.9 GB
EGAF00000076629 bam 3.2 GB
EGAF00000076630 bam 14.2 GB
EGAF00000076631 bam 9.3 GB
EGAF00000076632 bam 12.6 GB
EGAF00000076633 srf 21.0 GB
EGAF00000076634 srf 21.0 GB
EGAF00000076635 bam 7.4 GB
EGAF00000076636 bam 9.0 GB
EGAF00000076637 bam 9.2 GB
EGAF00000076639 bam 12.1 GB
EGAF00000076641 bam 8.4 GB
EGAF00000076642 bam 7.9 GB
EGAF00000076643 bam 8.7 GB
EGAF00000076644 bam 8.5 GB
EGAF00000076645 bam 7.4 GB
EGAF00000076646 srf 23.1 GB
EGAF00000076647 srf 23.0 GB
EGAF00000076648 bam 12.0 GB
EGAF00000076650 bam 7.5 GB
EGAF00000076651 srf 31.1 GB
EGAF00000076652 srf 31.0 GB
EGAF00000076653 bam 8.7 GB
EGAF00000076654 bam 7.6 GB
EGAF00000076655 bam 8.6 GB
EGAF00000076656 bam 9.0 GB
EGAF00000076657 bam 7.9 GB
EGAF00000076658 bam 7.8 GB
EGAF00000076659 bam 3.0 GB
EGAF00000076660 bam 9.0 GB
EGAF00000076661 bam 5.1 GB
EGAF00000076662 srf 26.1 GB
EGAF00000076663 srf 26.4 GB
EGAF00000076664 srf 24.0 GB
EGAF00000076665 srf 21.8 GB
EGAF00000076666 bam 6.7 GB
EGAF00000076667 srf 30.2 GB
EGAF00000076668 srf 30.2 GB
EGAF00000076670 srf 27.9 GB
EGAF00000076671 srf 28.1 GB
EGAF00000076672 bam 24.0 GB
EGAF00000076673 bam 14.2 GB
EGAF00000076674 bam 13.3 GB
EGAF00000076675 bam 8.2 GB
EGAF00000076677 bam 12.3 GB
EGAF00000076678 bam 12.9 GB
EGAF00000076679 srf 11.8 GB
EGAF00000076680 srf 11.8 GB
EGAF00000076682 bam 7.8 GB
EGAF00000076683 srf 20.8 GB
EGAF00000076684 srf 21.5 GB
EGAF00000076685 bam 6.3 GB
EGAF00000076686 bam 8.7 GB
EGAF00000076687 bam 8.8 GB
EGAF00000076688 bam 7.4 GB
EGAF00000076689 bam 8.8 GB
EGAF00000076690 bam 7.3 GB
EGAF00000076691 bam 7.2 GB
EGAF00000076692 srf 37.0 GB
EGAF00000076693 srf 37.1 GB
EGAF00000076694 bam 22.2 GB
EGAF00000076696 bam 14.4 GB
EGAF00000076697 bam 6.4 GB
EGAF00000076698 bam 7.8 GB
EGAF00000076699 srf 33.4 GB
EGAF00000076700 srf 31.8 GB
EGAF00000076702 bam 13.9 GB
EGAF00000076703 bam 7.6 GB
EGAF00000076704 bam 7.3 GB
EGAF00000076705 srf 36.0 GB
EGAF00000076706 srf 36.7 GB
EGAF00000076707 bam 3.4 GB
EGAF00000076708 bam 8.7 GB
188 Files (2.8 TB)