De novo and transmitted germline TP53 variation in pediatric osteosarcoma: A report from the Children's Oncology Group

Logan G. Spector, Ian Lock, John A. Lane, Aaron Sarver, Mark Krailo, Rajaram Nagarajan, Nathan Pankratz

Research output: Contribution to conferencePaper

Abstract

Pathogenic germline variation in TP53, usually accompanied by familial Li-Fraumeni syndrome (LFS), is known to underly a small proportion of pediatric osteosarcoma (OS). However, the extent to which de novo mutations and rare but mildly deleterious variation in TP53 are found in the genomes of OS patients is only now coming into focus with next-generation sequencing. We recruited 285 patients with OS diagnosed at
Original languageEnglish (US)
StatePublished - 2016

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Osteosarcoma
Pediatrics
Li-Fraumeni Syndrome
Genome
Mutation

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De novo and transmitted germline TP53 variation in pediatric osteosarcoma: A report from the Children's Oncology Group. / Spector, Logan G.; Lock, Ian; Lane, John A.; Sarver, Aaron; Krailo, Mark; Nagarajan, Rajaram; Pankratz, Nathan.

2016.

Research output: Contribution to conferencePaper

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AU - Spector, Logan G.

AU - Lock, Ian

AU - Lane, John A.

AU - Sarver, Aaron

AU - Krailo, Mark

AU - Nagarajan, Rajaram

AU - Pankratz, Nathan

PY - 2016

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AB - Pathogenic germline variation in TP53, usually accompanied by familial Li-Fraumeni syndrome (LFS), is known to underly a small proportion of pediatric osteosarcoma (OS). However, the extent to which de novo mutations and rare but mildly deleterious variation in TP53 are found in the genomes of OS patients is only now coming into focus with next-generation sequencing. We recruited 285 patients with OS diagnosed at

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