Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes.

Anna GuacciAngela CordellaTeresa RoccoGiorgio GiuratoGiovanni NassaFrancesca RizzoChiara CarlomagnoStefano PepeRoberta TaralloAlessandro Weisz

Published in: Journal of clinical laboratory analysis (2018)

The NGS-based strategy designed here for molecular analysis of a customized panel of BC predisposing and related genes was found to perform effectively, providing a comprehensive exploration of all genomic sequences of the investigated genes. It is thus useful for BC molecular diagnosis, in particular for familiar cases where alterations in routinely investigated genes, such as BRCAs, result to be absent.

Keyphrases

genome wide
bioinformatics analysis
genome wide identification
breast cancer risk
copy number
atomic force microscopy
genome wide analysis
dna methylation
single molecule
single cell
transcription factor
gene expression
genetic diversity