ArticlePloS one2020
Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Germline Variation and Somatic Alterations in Ewing Sarcoma.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.American journal of human genetics · 2023Article
- Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.Scientific reports · 2023Article
- Small round cell sarcomas.Nature reviews. Disease primers · 2022Review
- An international working group consensus report for the prioritization of molecular biomarkers for Ewing sarcoma.NPJ precision oncology · 2022Review
- Recent Advances in Pediatric Cancer Research.Cancer research · 2021Review
- Comparative international incidence of Ewing sarcoma 1988 to 2012.International journal of cancer · 2021Article
Corrections and comments
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Authors and funding
56 authors at 20 institutions in 5 countries.
Funding
Abstract
backgroundEwing sarcoma (EwS) is a rare, aggressive solid tumor of childhood, adolescence and young adulthood associated with pathognomonic EWSR1-ETS fusion oncoproteins altering transcriptional regulation. Genome-wide association studies (GWAS) have identified 6 common germline susceptibility loci but have not investigated low-frequency inherited variants with minor allele frequencies below 5% due to limited genotyped cases of this rare tumor.
methodsWe investigated the contribution of rare and low-frequency variation to EwS susceptibility in the largest EwS genome-wide association study to date (733 EwS cases and 1,346 unaffected controls of European ancestry).
resultsWe identified two low-frequency variants, rs112837127 and rs2296730, on chromosome 20 that were associated with EwS risk (OR = 0.186 and 2.038, respectively; P-value < 5×10-8) and located near previously reported common susceptibility loci. After adjusting for the most associated common variant at the locus, only rs112837127 remained a statistically significant independent signal (OR = 0.200, P-value = 5.84×10-8).
conclusionsThese findings suggest rare variation residing on common haplotypes are important contributors to EwS risk. IMPACT: Motivate future targeted sequencing studies for a comprehensive evaluation of low-frequency and rare variation around common EwS susceptibility loci.
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