Evidence map›Paper›PMID 19805033›Full record

ReviewProceedings of the National Academy of Sciences of the United States of America2010

Evolution in health and medicine Sackler colloquium: Somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration.

Steven A Frank

Open access · bronzeAbstract readReview
In one paragraph

Review in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
94citing papers in PubMed, 1 pooled it
4.8field-weighted citation impact, top 5% 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

94 citing papers in PubMed, 1 synthesis or guideline pooled it, 192 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. DNA methylation in invertebrate genomes and cell lineage plasticity.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  4. Article
  5. In Vitro Cytogenetic Assays: Chromosomal Aberrations and Micronucleus Tests.Methods in molecular biology (Clifton, N.J.) · 2026
    Article
  6. Quantitative and sensitive sequencing of somatic mutations induced by a maize transposon.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Cell-cell fusion in cancer: The next cancer hallmark?The international journal of biochemistry & cell biology · 2024
    Review
  11. A microglia clonal inflammatory disorder in Alzheimer's Disease.bioRxiv : the preprint server for biology · 2024
    Article
  12. Onco-Breastomics: An Eco-Evo-Devo Holistic Approach.International journal of molecular sciences · 2024
    Review
  13. Article
  14. Review
  15. Review
  16. Article
  17. Article
  18. Article
  19. Frontiers in genetics · 2022
    Review
  20. Review

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

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

1 author at 1 institution in 1 country.

Steven A FrankDepartment of Ecology and Evolutionary Biology, University of California, Irvine, CA 92697-2525, USA.
University of California, Irvine · US

Funding

Computational Models of Pathogen Evolution and Vaccinat*U01GM076499 · NIGMS · UNIVERSITY OF CALIFORNIA-IRVINE · PI BUSH, ROBIN M. · 2006 to 2010
$1.5M
NIGMS NIH HHS U01 GM076499NIGMS NIH HHS U01-GM-76499
6 · The paper itself

Abstract

Somatic mutations must happen often during development because of the large number of cell divisions to expand from a single-cell zygote to a full organism. A mutation in development carries forward to all descendant cells, causing genetic mosaicism. Widespread genetic mosaicism may influence diseases that derive from a few genetically altered cells, such as cancer. I show how to predict the expected amount of mosaicism and the variation in mosaicism between individuals. I then calculate the predicted risk of cancer derived from developmental mutations. The calculations show that a significant fraction of cancer in later life likely arises from developmental mutations in early life. In addition, much of the variation in the risk of cancer between individuals may arise from variation in the degree of genetic mosaicism set in early life. I also suggest that certain types of neurodegeneration, such as amyotrophic lateral sclerosis (ALS), may derive from a small focus of genetically altered cells. If so, then the risk of ALS would be influenced by developmental mutations and the consequent variation in genetic mosaicism. New technologies promise the ability to measure genetic mosaicism by sampling a large number of cellular genomes within an individual. The sampling of many genomes within an individual will eventually allow one to reconstruct the cell lineage history of genetic change in a single body. Somatic evolutionary genomics will follow from this technology, providing new insight into the origin and progression of disease with increasing age.

Indexed as

MosaicismMutationBiological EvolutionCell LineageHumansNeoplasmsNeurodegenerative DiseasesRisk Factors

Identifiers

PMID19805033
PMCPMC2868288
OpenAlexW2122673932

What OpenQuestion holds

Textmetadata
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.