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Article

Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes.

American journal of human genetics - 2 Jun 2022

Gillani Riaz, Camp Sabrina Y, Han Seunghun, Jones Jill K, Chu Hoyin, O'Brien Schuyler, Young Erin L, Hayes Lucy, Mitchell Gareth, Fowler Trent, Gusev Alexander, Kamihara Junne, Janeway Katherine A, Schiffman Joshua D, Crompton Brian D, AlDubayan Saud H, Van Allen Eliezer M

Abstract excerpt

More knowledge is needed regarding germline predisposition to Ewing sarcoma to inform biological investigation and clinical practice. Here, we evaluated the enrichment of pathogenic germline variants in Ewing sarcoma relative to other pediatric sarcoma subtypes, as well as patterns of inheritance of these variants. We carried out European-focused and pan-ancestry case-control analyses to screen for enrichment of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35512711
DOI: 10.1016/j.ajhg.2022.04.007
PMCID: PMC9247831

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