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Article

Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.

Scientific reports - 20 Feb 2023

Alba-Pavón Piedad, Alaña Lide, Gutierrez-Jimeno Miriam, García-Obregón Susana, Imízcoz Teresa, Panizo Elena, González-Urdiales Paula, Echebarria-Barona Aizpea, Lopez Almaraz Ricardo, Zaldumbide Laura, Astigarraga Itziar, Patiño-García Ana, Villate Olatz

Abstract excerpt

Genetic predisposition is an important risk factor for cancer in children and adolescents but detailed associations of individual genetic mutations to childhood cancer are still under intense investigation. Among pediatric cancers, sarcomas can arise in the setting of cancer predisposition syndromes. The association of sarcomas with these syndromes is often missed, due to the rarity and heterogeneity of sarcomas...

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Identifiers

PMID: 36805510
DOI: 10.1038/s41598-023-29982-2
PMCID: PMC9941115

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