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Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.

Genome medicine - 15 Aug 2022

Ceyhan-Birsoy Ozge, Jayakumaran Gowtham, Kemel Yelena, Misyura Maksym, Aypar Umut, Jairam Sowmya, Yang Ciyu, Li Yirong, Mehta Nikita, Maio Anna, Arnold Angela, Salo-Mullen Erin, Sheehan Margaret, Syed Aijazuddin, Walsh Michael, Carlo Maria, Robson Mark, Offit Kenneth, Ladanyi Marc, Reis-Filho Jorge S, Stadler Zsofia K, Zhang Liying, Latham Alicia, Zehir Ahmet, Mandelker Diana

Abstract excerpt

BACKGROUND: Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance...

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Identifiers

PMID: 35971132
DOI: 10.1186/s13073-022-01101-2
PMCID: PMC9377129

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