Evidence map›Paper›PMID 38388848›Full record

ArticleNature genetics2024

Chromosome evolution screens recapitulate tissue-specific tumor aneuploidy patterns.

Emma V Watson, Jake June-Koo Lee, Doga C Gulhan, Giorgio E M Melloni, Sergey V Venev, Rayna Y Magesh, Abdulrazak Frederick, Kunitoshi Chiba, Eric C Wooten, Kamila Naxerova and 3 more

Open access · hybridAbstract read
In one paragraph

Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
16.0field-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

37 citing papers in PubMed, 50 citations in OpenAlex.

  1. Trial
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  5. Review
  6. HOROSCOPE: Decoding human centromere architecture from short reads usingbioRxiv : the preprint server for biology · 2026
    Article
  7. Article
  8. Article
  9. Article
  10. Tissue-Specific Prevalence and Clonal Architecture ofbioRxiv : the preprint server for biology · 2026
    Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 4 institutions in 1 country.

Emma V Watson *Department of Genetics, Harvard Medical School and Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.
Jake June-Koo Lee *Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1348-4094
Doga C GulhanDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-5419-0549
Giorgio E M MelloniDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6371-1334
Sergey V VenevDepartment of Systems Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA.ORCID http://orcid.org/0000-0002-1507-7460
Rayna Y MageshDepartment of Systems Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Abdulrazak FrederickDepartment of Systems Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Kunitoshi ChibaDepartment of Genetics, Harvard Medical School and Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.
Eric C WootenDepartment of Genetics, Harvard Medical School and Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-8403-8668
Kamila NaxerovaDepartment of Genetics, Harvard Medical School and Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-7744-5110
Job DekkerDepartment of Systems Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA.ORCID http://orcid.org/0000-0001-5631-0698
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. peter_park@hms.harvard.edu.ORCID http://orcid.org/0000-0001-9378-960X
Stephen J ElledgeDepartment of Genetics, Harvard Medical School and Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA. selledge@genetics.med.harvard.edu.ORCID http://orcid.org/0000-0001-7923-6283
Brigham and Women's Hospital · USHarvard University · USUniversity of Massachusetts Chan Medical School · USHoward Hughes Medical Institute · US

Funding

Structural Annotation of the Human GenomeR01HG003143 · NHGRI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI Job Dekker · 2003 to 2026
$15.4M
Analysis of the Mammalian DNA Damage ResponseR01CA234600 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELLEDGE, STEPHEN J · 2019 to 2023
$2.0M
Damon Runyon Cancer Research Foundation (Cancer Research Fund of the Damon Runyon-Walter Winchell Foundation) DRG-2269-16Howard Hughes Medical Institute (HHMI) NoneNCI NIH HHS R01 CA234600NHGRI NIH HHS R01 HG003143
6 · The paper itself

Abstract

Whole chromosome and arm-level copy number alterations occur at high frequencies in tumors, but their selective advantages, if any, are poorly understood. Here, utilizing unbiased whole chromosome genetic screens combined with in vitro evolution to generate arm- and subarm-level events, we iteratively selected the fittest karyotypes from aneuploidized human renal and mammary epithelial cells. Proliferation-based karyotype selection in these epithelial lines modeled tissue-specific tumor aneuploidy patterns in patient cohorts in the absence of driver mutations. Hi-C-based translocation mapping revealed that arm-level events usually emerged in multiples of two via centromeric translocations and occurred more frequently in tetraploids than diploids, contributing to the increased diversity in evolving tetraploid populations. Isogenic clonal lineages enabled elucidation of pro-tumorigenic mechanisms associated with common copy number alterations, revealing Notch signaling potentiation as a driver of 1q gain in breast cancer. We propose that intrinsic, tissue-specific proliferative effects underlie tumor copy number patterns in cancer.

Indexed as

AneuploidyBreast NeoplasmsCell ProliferationDNA Copy Number VariationsEpithelial CellsEvolution, MolecularFemaleHumansNeoplasmsOrgan SpecificityReceptors, NotchTranslocation, GeneticReceptors, Notch

Identifiers

PMID38388848
PMCPMC11096114
OpenAlexW4392050005

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.