Non-reproducible sequence artifacts in FFPE tissue: an experience report.

ABSTRACT:

Background

Recent advances in sequencing technologies supported the development of molecularly targeted therapy in cancer patients. Thus, genomic analyses are becoming a routine part in clinical practice and accurate detection of actionable mutations is essential to assist diagnosis and therapy choice. However, this is often challenging due to major problems associated with DNA from formalin-fixed paraffin-embedded tissue which is usually the primary source for genetic testing.

Objectives

Here we want to share our experience regarding major problems associated with FFPE DNA used for PCR-based sequencing as illustrated by the mutational analysis of ERBB4 in melanoma. We want to focus on two major problems including extensive DNA fragmentation and hydrolytic deamination as sou

SUBMITTER: Ofner R 

PROVIDER: S-EPMC11819302 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature