ArticlePloS one2013
Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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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.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Characterization of large structural genetic mosaicism in human autosomes.American journal of human genetics · 2015Pooled it
- Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk.Nature communications · 2026Article
- Clonal hematopoiesis and hematological malignancy.The Journal of clinical investigation · 2024Review
- A Paradoxical Role for Somatic Chromosomal Mosaicism and Chromosome Instability in Cancer: Theoretical and Technological Aspects.Methods in molecular biology (Clifton, N.J.) · 2024Review
- Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.Nature genetics · 2023Article
- Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality.Leukemia research · 2023Review
- Sub-GOFA: A tool for Sub-Gene Ontology function analysis in clonal mosaicism using semantic (logical) similarity.Bioinformation · 2022Article
- Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts.Aging cell · 2019Article
- How common is germinal mosaicism that leads to premeiotic aneuploidy in the female?Journal of assisted reproduction and genetics · 2019Review
- Chromosome Instability in the Neurodegenerating Brain.Frontiers in genetics · 2019Article
- Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq.Genome research · 2018Article
- Characterization of breakpoint regions of large structural autosomal mosaic events.Human molecular genetics · 2017Article
- Therapy-related myeloid neoplasms: when genetics and environment collide.Nature reviews. Cancer · 2017Review
- The ageing genome, clonal mosaicism and chronic disease.Current opinion in genetics & development · 2017Review
- Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.Blood advances · 2017Article
- Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.Nature communications · 2016Article
- Ultra-fast local-haplotype variant calling using paired-end DNA-sequencing data reveals somatic mosaicism in tumor and normal blood samples.Nucleic acids research · 2016Article
- Somatic mosaicism: on the road to cancer.Nature reviews. Cancer · 2016Review
- Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence.The New England journal of medicine · 2014Article
- Acute myeloid leukaemia: a paradigm for the clonal evolution of cancer?Disease models & mechanisms · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 8 institutions in 1 country.
Funding
Abstract
Chromosomal abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive of malignant transformation in individuals without apparent clinical presentation of a hematologic cancer. In an effort to confirm previous reports of an association between clonal mosaicism and incident hematologic cancer, we applied the anomDetectBAF algorithm to call chromosomal anomalies in genotype data from previously conducted Genome Wide Association Studies (GWAS). The genotypes were initially collected from DNA derived from peripheral blood of 12,176 participants in the Group Health electronic Medical Records and Genomics study (eMERGE) and the Women's Health Initiative (WHI). We detected clonal mosaicism in 169 individuals (1.4%) and large clonal mosaic events (>2 mb) in 117 (1.0%) individuals. Though only 9.5% of clonal mosaic carriers had an incident diagnosis of hematologic cancer (multiple myeloma, myelodysplastic syndrome, lymphoma, or leukemia), the carriers had a 5.5-fold increased risk (95% CI: 3.3-9.3; p-value = 7.5×10(-11)) of developing these cancers subsequently. Carriers of large mosaic anomalies showed particularly pronounced risk of subsequent leukemia (HR = 19.2, 95% CI: 8.9-41.6; p-value = 7.3×10(-14)). Thus we independently confirm the association between detectable clonal mosaicism and hematologic cancer found previously in two recent publications.
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Registered trials
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.