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

Background Breast cancer (BC) is the most common neoplasm in women, with 5%‐10% patients showing a familial predisposition, where germline mutations in BRCA1/BRCA2 genes are found in –20% of cases. Next‐generation sequencing (NGS) is among the best available options for genetic screening, providing several benefits that include enhanced sensitivity and unbiased mutation detection. PALB2 (partner and localizer of BRCA2) is a cancer predisposing...