AUTHOR=De Angelis Carmine , Nardelli Carmela , Concolino Paola , Pagliuca Martina , Setaro Mario , De Paolis Elisa , De Placido Pietro , Forestieri Valeria , Scaglione Giovanni Luca , Ranieri Annalisa , Lombardo Barbara , Pastore Lucio , De Placido Sabino , Capoluongo Ettore 

TITLE=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

JOURNAL=Frontiers in Oncology

VOLUME=11

YEAR=2021

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2021.602523

DOI=10.3389/fonc.2021.602523

ISSN=2234-943X

ABSTRACT=<p>The partner and localizer of <italic>BRCA2</italic> (<italic>PALB2</italic>) is a major <italic>BRCA2</italic> binding partner that participates in homologous recombination repair in response to DNA double-strand breaks. Germline alterations of the <italic>PALB2</italic> 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 <italic>PALB2</italic> gene, and resulted in the production of a truncated PALB2 protein. These findings expand the mutational spectra of <italic>PALB2</italic>-associated breast cancer, and may improve the mutation-based screening and genetic diagnosis of breast cancer.</p>