A novel molecular diagnostics platform for somatic and germline precision oncology.

ABSTRACT:

Background

Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the results, but also in their integration into the clinical practice. We have developed a novel NGS diagnostic platform aimed at detecting (1) somatic genomic alterations associated with the response to approved targeted cancer therapies and (2) germline mutations predisposing to hereditary malignancies.

Methods

Next-generation sequencing libraries enriched in the exons of 215 cancer genes (97 for therapy selection and 148 for predisposition, with 30 informative for both applications), as well as selected introns from 17 genes involved

SUBMITTER: Cabanillas R 

PROVIDER: S-EPMC5511795 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature