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
oleh: Carmine De Angelis, Carmela Nardelli, Paola Concolino, Martina Pagliuca, Mario Setaro, Elisa De Paolis, Pietro De Placido, Valeria Forestieri, Giovanni Luca Scaglione, Annalisa Ranieri, Annalisa Ranieri, Barbara Lombardo, Barbara Lombardo, Lucio Pastore, Lucio Pastore, Sabino De Placido, Ettore Capoluongo, Ettore Capoluongo
| Format: | Article |
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| Diterbitkan: | Frontiers Media S.A. 2021-02-01 |
Deskripsi
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.