Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.

ABSTRACT: The development of breast and ovarian cancer is strongly connected to the inactivation of the BRCA1 and BRCA2 genes by different germline and somatic alterations, and their diagnosis has great significance in targeted tumor therapy, since recently approved PARP inhibitors show high efficiency in the treatment of BRCA-deficient tumors. This raises the need for new diagnostic methods that are capable of performing an integrative mutation analysis of the BRCA genes not only from germline DNA but also from formalin-fixed and paraffin-embedded (FFPE) tumor samples. Here we describe the development of such a methodology based on next-generation sequencing and a new bioinformatics software for data analysis. The diagnostic method was initially developed on an Illumina MiSeq NGS platform using ger

SUBMITTER: Enyedi 

PROVIDER: S-EPMC5308695 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature