Evidence map›Paper›PMID 37697102›Full record

ArticleNature genetics2023

Mutation rates and fitness consequences of mosaic chromosomal alterations in blood.

Caroline J Watson, Jamie R Blundell

Open access · hybridAbstract read
In one paragraph

Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
5.3field-weighted citation impact, top 4% 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

19 citing papers in PubMed, 22 citations in OpenAlex.

  1. Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026
    Article
  2. Article
  3. Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026
    Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Age distinguishes selection from causation in cancer genomes.bioRxiv : the preprint server for biology · 2025
    Article
  10. Article
  11. Article
  12. Review
  13. Review
  14. Review
  15. Y Chromosome Loss and Implications for Oncology.Molecular cancer research : MCR · 2024
    Review
  16. Article
  17. Article
  18. Article
  19. Review
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

2 authors at 1 institution in 1 country.

Caroline J WatsonEarly Cancer Institute, University of Cambridge, Cambridge Biomedical Campus, Cambridge, Cambridgeshire, UK. cw672@cam.ac.uk.ORCID http://orcid.org/0000-0002-8351-268X
Jamie R BlundellEarly Cancer Institute, University of Cambridge, Cambridge Biomedical Campus, Cambridge, Cambridgeshire, UK. jrb75@cam.ac.uk.ORCID http://orcid.org/0000-0001-9747-7363
University of Cambridge · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mosaic chromosomal alterations (mCAs) are common in cancers and can arise decades before diagnosis. A quantitative understanding of the rate at which these events occur, and their functional consequences, could improve cancer risk prediction and our understanding of somatic evolution. Using mCA clone size estimates from the blood of approximately 500,000 UK Biobank participants, we estimate mutation rates and fitness consequences of acquired gain, loss and copy-neutral loss of heterozygosity events. Most mCAs have moderate to high fitness effects but occur at a low rate, being more than tenfold less common than equivalently fit single-nucleotide variants. Notable exceptions are mosaic loss of X and Y, which we estimate have roughly 1,000-fold higher mutation rates than autosomal mCAs. Although the way in which most mCAs increase in prevalence with age is consistent with constant growth rates, some mCAs exhibit different behavior, suggesting that their fitness may depend on inherited variants, extrinsic factors or distributions of fitness effects.

Indexed as

Mutation RateNeoplasmsChromosomesChromosomes, Human, YHumansMaleMosaicismMutation

Identifiers

PMID37697102
PMCPMC10562253
OpenAlexW4386600125

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.