Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.

doi:10.1200/PO.20.00218

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Article

Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.

JCO precision oncology - 1 Jan 2021

Kim Jung, Light Nicholas, Subasri Vallijah, Young Erin L, Wegman-Ostrosky Talia, Barkauskas Donald A, Hall David, Lupo Philip J, Patidar Rajesh, Maese Luke D, Jones Kristine, Wang Mingyi, Tavtigian Sean V, Wu Dongjing, Shlien Adam, Telfer Frank, Goldenberg Anna, Skapek Stephen X, Wei Jun S, Wen Xinyu, Catchpoole Daniel, Hawkins Douglas S, Schiffman Joshua D, Khan Javed, Malkin David, Stewart Douglas R

Abstract excerpt

Rhabdomyosarcoma (RMS) is the most common pediatric soft-tissue sarcoma and accounts for 3% of all pediatric cancer. In this study, we investigated germline sequence and structural variation in a broad set of genes in two large, independent RMS cohorts. MATERIALS AND METHODS: Genome sequencing of the discovery cohort (n = 273) and exome sequencing of the secondary cohort (n = 121) were conducted on germline DNA....

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Identifiers

PMID: 34095712
DOI: 10.1200/PO.20.00218
PMCID: PMC8169077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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