%0 Case Reports
%T 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.
%A De Angelis C
%A Nardelli C
%A Concolino P
%A Pagliuca M
%A Setaro M
%A De Paolis E
%A De Placido P
%A Forestieri V
%A Scaglione GL
%A Ranieri A
%A Lombardo B
%A Pastore L
%A De Placido S
%A Capoluongo E
%J Front Oncol
%V 11
%N 0
%D 2021
%M 33718150
%F 5.738
%R 10.3389/fonc.2021.602523
%X 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.