Next-Generation Sequencing of the and Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer

Genetic testing for hereditary breast and/or ovarian cancer mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the BRCA1 and BRCA2 genes. We explored a more efficient genetic screening strategy based on next-generation sequencing of the BRCA1 and BRCA2 genes in 210 hereditary breast and/or ovarian cancer patients. We first validated this approach in a cohort of 115 samples with previously known BRCA1 and BRCA2 mutations and polymorphisms. Genomic DNA was amplified using the Ion AmpliSeq BRCA1 and BRCA2 panel.

Source: Journal of Molecular Diagnostics - December 31, 2014 Category: Pathology Authors: Daniel Trujillano, Maximilian E.R. Weiss, Juliane Schneider, Julia Köster, Efstathios B. Papachristos, Viatcheslav Saviouk, Tetyana Zakharkina, Nahid Nahavandi, Lejla Kovacevic, Arndt Rolfs Tags: Regular Article Source Type: research