Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.

Arianna NicolussiFrancesca BelardinilliYasaman MahdavianValeria ColicchiaSonia D'InzeoMarialaura PetroniMassimo ZaniSergio FerraroVirginia ValentiniLaura OttiniGiuseppe GianniniCarlo CapalboAnna Coppa

Published in: PeerJ (2019)

Our experience strongly supports that the Ion Torrent PGM technology in BRCA1 and BRCA2 germline variant identification, combined with MLPA analysis, is highly sensitive, easy to use, faster, and cheaper than traditional (Sanger sequencing/MLPA) approaches.

Keyphrases

breast cancer risk
bioinformatics analysis
genome wide
gene expression
copy number
dna methylation
dna damage
living cells
tandem mass spectrometry
cell free
circulating tumor