Evidence map›Paper›PMID 23663786›Full record

ArticleCell2013

Diverse mechanisms of somatic structural variations in human cancer genomes.

Lixing Yang, Lovelace J Luquette, Nils Gehlenborg, Ruibin Xi, Psalm S Haseley, Chih-Heng Hsieh, Chengsheng Zhang, Xiaojia Ren, Alexei Protopopov, Lynda Chin and 3 more

Erratum issuedOpen access · bronzeAbstract read
In one paragraph

Article in Cell, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 228 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
228citing papers in PubMed, 1 pooled it
11.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

228 citing papers in PubMed, 1 synthesis or guideline pooled it, 376 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Extrachromosomal DNA and cancer: function, formation, and clinical implications.Journal of experimental & clinical cancer research : CR · 2026
    Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Panorama of Chromosomal Instability in Lung Cancer.medRxiv : the preprint server for health sciences · 2025
    Article
  13. Article
  14. A Thiopurine-like Mutagenic Process Defines TGCT Subtypes.bioRxiv : the preprint server for biology · 2025
    Article
  15. Article
  16. The landscape of structural variation in pediatric cancer.bioRxiv : the preprint server for biology · 2025
    Article
  17. Article
  18. Article
  19. Article
  20. Article

168 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

13 authors at 5 institutions in 3 countries.

Lixing YangCenter for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
Lovelace J Luquette
Nils Gehlenborg
Ruibin Xi
Psalm S Haseley
Chih-Heng Hsieh
Chengsheng Zhang
Xiaojia Ren
Alexei Protopopov
Lynda Chin
Raju Kucherlapati
Charles Lee
Peter J Park
Brigham and Women's Hospital · USHarvard University · USCenter for Systems Biology · USThe University of Texas MD Anderson Cancer Center · USPeking University · CN

Funding

The Cancer Genome Atlas Data Analysis CenterU24CA143845 · NCI · BROAD INSTITUTE, INC. · PI CHIN, LYNDA, GETZ, GAD A · 2009 to 2016
$16.0M
Harvard Genome Characterization CenterU24CA144025 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI KUCHERLAPATI, RAJU S. · 2009 to 2016
$14.0M
Analysis of Patterns of Structural Variation in the 1000 Genomes Data SetU01HG005725 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LEE, CHARLES · 2010 to 2011
$1.7M
Structural Genomic Variation Analysis for the1000 Genome ProjectU01HG005209 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LEE, CHARLES · 2009 to 2010
$1.6M
Statistical methods for estimation of copy number from next-generation sequencingRC1HG005482 · NHGRI · HARVARD MEDICAL SCHOOL · PI PARK, PETER J · 2009 to 2010
$773k
NCI NIH HHS U24 CA143845NCI NIH HHS U24CA143845NCI NIH HHS U24 CA144025NCI NIH HHS U24CA144025NHGRI NIH HHS RC1 HG005482NHGRI NIH HHS RC1HG005482NHGRI NIH HHS U01 HG005209NHGRI NIH HHS U01HG005209NHGRI NIH HHS U01 HG005725NHGRI NIH HHS U01HG005725
6 · The paper itself

Abstract

Identification of somatic rearrangements in cancer genomes has accelerated through analysis of high-throughput sequencing data. However, characterization of complex structural alterations and their underlying mechanisms remains inadequate. Here, applying an algorithm to predict structural variations from short reads, we report a comprehensive catalog of somatic structural variations and the mechanisms generating them, using high-coverage whole-genome sequencing data from 140 patients across ten tumor types. We characterize the relative contributions of different types of rearrangements and their mutational mechanisms, find that ~20% of the somatic deletions are complex deletions formed by replication errors, and describe the differences between the mutational mechanisms in somatic and germline alterations. Importantly, we provide detailed reconstructions of the events responsible for loss of CDKN2A/B and gain of EGFR in glioblastoma, revealing that these alterations can result from multiple mechanisms even in a single genome and that both DNA double-strand breaks and replication errors drive somatic rearrangements.

Indexed as

AlgorithmsGenome, HumanMutationChromosome AberrationsGenome-Wide Association StudyGlioblastomaHumansNeoplasms

Identifiers

PMID23663786
PMCPMC3704973
OpenAlexW2041937775

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.