ArticleBlood advances2017
Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.
Article in Blood advances, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2018Trial
- ConstitutionalHaematologica · 2018Trial
- UPDhmm: detecting uniparental disomy from NGS trio data.Bioinformatics (Oxford, England) · 2026Article
- Fanconi Anemia in a 31-Year-Old Patient with Multiple Malignant Tumor Foci, Including Appendiceal Cancer, and Multiple Coexisting Pathologies.The American journal of case reports · 2024Article
- Transitioning single-cell genomics into the clinic.Nature reviews. Genetics · 2023Review
- SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.Human genetics · 2023Article
- Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.Nature communications · 2023Article
- Polyclonal evolution of Fanconi anemia to MDS and AML revealed at single cell resolution.Experimental hematology & oncology · 2022Article
- Mechanisms of somatic transformation in inherited bone marrow failure syndromes.Hematology. American Society of Hematology. Education Program · 2021Review
- A novel classification of hematologic conditions in patients with Fanconi anemia.Haematologica · 2021Article
- The predictive value of PNH clones, 6p CN-LOH, and clonal TCR gene rearrangement for aplastic anemia diagnosis.Blood advances · 2021Article
- Somatic mosaicism in inherited bone marrow failure syndromes.Best practice & research. Clinical haematology · 2021Review
- Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation.Molecular genetics & genomic medicine · 2020Article
- A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.Genome medicine · 2019Article
- Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.International journal of cancer · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
18 authors at 14 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Detectable clonal mosaicism for large chromosomal events has been associated with aging and an increased risk of hematological and some solid cancers. We hypothesized that genetic cancer predisposition disorders, such as Fanconi anemia (FA), could manifest a high rate of chromosomal mosaic events (CMEs) in peripheral blood, which could be used as early biomarkers of cancer risk. We studied the prevalence of CMEs by single-nucleotide polymorphism (SNP) array in 130 FA patients' blood DNA and their impact on cancer risk. We detected 51 CMEs (4.4-159 Mb in size) in 16 out of 130 patients (12.3%), of which 9 had multiple CMEs. The most frequent events were gains at 3q (n = 6) and 1q (n = 5), both previously associated with leukemia, as well as rearrangements with breakpoint clustering within the major histocompatibility complex locus (
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Registered trials
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