ArticleBlood advances2017
Mosaic chromosome 20q deletions are more frequent in the aging population.
Article in Blood advances, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Deletion 20q12 is associated with histological transformation of nodal marginal zone lymphoma to diffuse large B-cell lymphoma.American journal of hematology · 2020Trial
- Donor-derived del[20q] following allogeneic-hematopoietic cell transplantation: a case with 26-year follow-up and literature review.Bone marrow transplantation · 2026Review
- Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.Blood advances · 2024Article
- Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.Journal of personalized medicine · 2024Article
- Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality.Leukemia research · 2023Review
- Genome-wide cell-free DNA screening: a focus on copy-number variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Somatic genetic rescue of a germline ribosome assembly defect.Nature communications · 2021Article
- Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.European journal of human genetics : EJHG · 2021Article
- Clonal hematopoiesis and measurable residual disease assessment in acute myeloid leukemia.Blood · 2020Review
- Hippo kinase loss contributes to del(20q) hematologic malignancies through chronic innate immune activation.Blood · 2019Article
- Clonal dominance of a donor-derived del(20q) clone after allogeneic hematopoietic stem cell transplantation in an acute myeloid leukemia patient with del(20q).Journal of clinical laboratory analysis · 2019Article
- Mosaicism, aging and cancer.Current opinion in oncology · 2019Review
- Article
- Article
- Characterization of breakpoint regions of large structural autosomal mosaic events.Human molecular genetics · 2017Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deletions on the long-arm of chromosome 20, del(20q), are common karyotypic abnormalities in myeloid disorders. Bioinformatic analyses of the B-allele frequency and log R ratio values from genome-wide association data have identified individuals who are mosaic for large structural abnormalities (>2 Mb). We investigated the most common autosomal event, namely mosaic del(20q), in 46 254 nonhematologic cancer cases and 36 229 cancer-free controls. We detected 91 mosaic del(20q) in leukocytes (80%) and buccal material (20%). The mosaic del(20q) mapped to a well-characterized minimally deleted region (MDR) reported in myeloid disorders. Common breakpoint clusters map to the coordinates of 29.9 to 31.5 Mb on the centromeric side of mosaic del(20q), and 42.0 to 45.4 Mb and 48.1 to 50.7 Mb on the telomeric end (GRCh36). Multivariate analyses suggest del(20q) increases with age, and is more common in males but less common in individuals of African ancestry. No conclusive associations were noted between the presence of mosaic del(20q) and subsequent solid tumor risk. Our observations demonstrate that the MDR of del(20q) is the most common large scale mosaic autosomal abnormality in whole blood and has a frequency of ∼1 in every 1000 adults over the age of 50, which exceeds the expected incidence of myeloid leukemia in the population. Our results indicate that subclonal mosaic events of a region implicated in myeloid disorders on 20q are more frequent than the predicted population-estimated incidence of myeloid diseases, and thus suggest that these events can be tolerated until additional events accumulate that drive myeloid disorders.
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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.