ArticleOncotarget2018
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.
Article in Oncotarget, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Outcomes of germ line testing for children with hematologic malignancies undergoing hematopoietic cell transplantation.Blood advances · 2026Article
- Telomere Length and Genetic Variations in Acquired Pediatric Aplastic Anemia: A Flow-FISH Study in Korean Patients.Diagnostics (Basel, Switzerland) · 2025Article
- Identification of Novel Potential Predisposing Variants in Familial Acute Myeloid Leukemia.Cancer reports (Hoboken, N.J.) · 2024Article
- Germline loss-of-functionHaematologica · 2024Article
- Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: a single-center retrospective study.Annals of hematology · 2023Article
- Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia.Leukemia · 2022Article
- Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.Blood advances · 2020Article
- Distinctive and common features of moderate aplastic anaemia.British journal of haematology · 2020Article
- Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2020Article
- Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.British journal of haematology · 2019Article
- Proteomic analysis for identifying the differences in molecular profiling between fanconi anaemia and aplastic anaemia.American journal of translational research · 2019Article
- Hematological Malignancies in Adults With a Family Predisposition.Deutsches Arzteblatt international · 2018Review
- Clonal evolution in aplastic anemia: failed tumor surveillance or maladaptive recovery?Leukemia & lymphomaReview
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Using next generation sequencing we have systematically analyzed a large cohort of 489 patients with bone marrow failure (BMF), including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), aplastic anemia (AA), and related conditions for the presence of germline (GL) alterations in Fanconi Anemia (FA) and telomerase genes. We have detected an increased frequency of heterozygous FA gene mutations in MDS and to lesser degree in AML suggesting that the presence of one normal allele may not be completely protective and indeed heterozygous FA lesions may have a long latency period before hematologic manifestation. In contrast, GL telomerase gene mutations were not associated with increased disease risk. When compared to large control cohorts, we have not detected an increased frequency of damaging variants among telomerase complex genes, including those previously believed to be involved in the pathogenesis of AA. Our results may suggest that while low penetrance and delayed disease onset can confound identification of genetic predisposition factors, GL FA alterations can be also associated with MDS.
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Registered trials
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