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

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