{Reference Type}: Case Reports
{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.
{Author}: De Angelis C;Nardelli C;Concolino P;Pagliuca M;Setaro M;De Paolis E;De Placido P;Forestieri V;Scaglione GL;Ranieri A;Lombardo B;Pastore L;De Placido S;Capoluongo E;
{Journal}: Front Oncol
{Volume}: 11
{Issue}: 0
{Year}: 2021
{Factor}: 5.738
{DOI}: 10.3389/fonc.2021.602523
{Abstract}: 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.