The partner and localizer of BRCA2 (PALB2) is a major BRCA2 binding partner that participates in homologous recombination repair in response to DNA double-strand breaks. Germline alterations of the PALB2 gene have recently been associated with a high risk of developing breast cancer. We investigated a 37-year-old Caucasian woman with breast cancer and family history of breast cancer using targeted next generation sequencing. A novel heterozygous deletion involving exons 5 and 6 was found in the PALB2 gene, and resulted in the production of a truncated PALB2 protein. These findings expand the mutational spectra of PALB2-associated breast cancer, and may improve the mutation-based screening and genetic diagnosis of breast cancer.
Keywords: PALB2; breast-cancer risk; deletion; hereditary breast cancer; surveillance.
Copyright © 2021 De Angelis, Nardelli, Concolino, Pagliuca, Setaro, De Paolis, De Placido, Forestieri, Scaglione, Ranieri, Lombardo, Pastore, De Placido and Capoluongo.