Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.

ABSTRACT:

Objectives

Screening for mutations in large genes is challenging in a molecular diagnostic environment. Sanger-based DNA sequencing methods are largely used; however, massively parallel sequencing (MPS) can accommodate increasing test demands and financial constraints. This study aimed to establish a simple workflow to amplify and screen all coding regions of the BRCA1 and BRCA2 (BRCA1/2) genes by Sanger-based sequencing as well as to assess a MPS approach encompassing multiplex polymerase chain reaction (PCR) and pyrosequencing.

Methods

This study was conducted between July 2011 and April 2013. A total of 20 patients were included in the study who had been referred to Genetic Health Services New Zealand (Northern Hub) for BRCA1/2 mutation screening. Patients were randomly d

SUBMITTER: Lai S 

PROVIDER: S-EPMC4318608 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature