Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie

• DOI: 10.3389/fonc.2021.602523
• Publication Date: 2021-02-24T05:44:28Z
• Authors: Carmine De Angelis; Carmela Nardelli; Paola Concolino; Martina Pagliuca; Mario Setaro; Elisa De Paolis; Pietro De Placido; Valeria Forestieri; Giovanni Luca Sca...; Annalisa Ranieri; Barbara Lombardo; Lucio Pastore; Sabino De Placido; Ettore Capoluongo
• Keywords: breast-cancer risk; Neoplasms. Tumors. Oncology. Including cancer and carcinogens; hereditary breast cancer; 3. Good health; 03 medical and health sciences; breast-cancer risk; deletion; hereditary breast cancer; PALB2; surveillance;; 0302 clinical medicine; Oncology; PALB2; surveillance; deletion; RC254-282

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.