Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome.

doi:10.1093/jnci/djab117

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Article

Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome.

Journal of the National Cancer Institute - 29 Nov 2021

Ceyhan-Birsoy Ozge, Selenica Pier, Chui M Herman, Jayakumaran Gowtham, Ptashkin Ryan, Misyura Maksym, Aypar Umut, Jairam Sowmya, Yang Ciyu, Li Yirong, Mehta Nikita, Kemel Yelena, Salo-Mullen Erin, Maio Anna, Sheehan Margaret, Zehir Ahmet, Carlo Maria, Latham Alicia, Stadler Zsofia, Robson Mark, Offit Kenneth, Ladanyi Marc, Walsh Michael, Reis-Filho Jorge S, Mandelker Diana

Abstract excerpt

BACKGROUND: Genetic testing for Li-Fraumeni syndrome (LFS) is performed by using blood specimens from patients selected based on phenotype-dependent guidelines. This approach is problematic for understanding the LFS clinical spectrum because patients with nonclassical presentations are missed, clonal hematopoiesis-related somatic blood alterations cannot be distinguished from germline variants, and unrelated...

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Identifiers

PMID: 34240179
DOI: 10.1093/jnci/djab117
PMCID: PMC9891110

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TP53

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