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Article

Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.

Cancer genetics - 1 Aug 2018

Powis Zöe, Espenschied Carin R, LaDuca Holly, Hagman Kelly D, Paudyal Tripti, Li Shuwei, Inaba Hiroto, Mauer Ann, Nathanson Katherine L, Knost James, Chao Elizabeth C, Tang Sha

Abstract excerpt

Clinical diagnostic exome sequencing (DES) has been effective in diagnosing individuals with suspected genetic conditions; nevertheless little has been described regarding its clinical utility in individuals with a personal and family history of cancer. This study aimed to assess diagnostic yield and clinical characteristics of pediatric and adult patients undergoing germline DES for hereditary cancer. We...

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Identifiers

PMID: 29778231
DOI: 10.1016/j.cancergen.2018.04.002

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DES

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