Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

ABSTRACT:

Background

In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected genes. The present study aimed to establish and validate a large gene panel for HTS, and determine its diagnostic yield and clinical utility.

Methods

The study cohort comprised 173 patients with suspected, but unexplained, HTS (group U) and 64 HTS patients with a broad spectrum of known germline mutations (group K). All patients in group U presented with early age at onset, multiple tumors, and/or a familial clustering of various tumor types; no germline mutation had been identified during routine diagnostics. Sequencing of leukocyte DNA was performed for the 94 HTS genes of the Illumina TruSight™Cancer Pane

SUBMITTER: Henn J 

PROVIDER: S-EPMC6343270 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature