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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.

frontiers in oncology

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