De Angelis Carmine, Nardelli Carmela, Concolino Paola, Pagliuca Martina, Setaro Mario, De Paolis Elisa, De Placido Pietro, Forestieri Valeria, Scaglione Giovanni Luca, Ranieri Annalisa, Lombardo Barbara, Pastore Lucio, De Placido Sabino, Capoluongo Ettore
Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
Front Oncol. 2021 Feb 24;11:602523. doi: 10.3389/fonc.2021.602523. eCollection 2021.
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.
（）的伴侣蛋白和定位蛋白是一种主要的结合伴侣，参与对DNA双链断裂的同源重组修复。该基因的种系改变最近被认为与患乳腺癌的高风险相关。我们使用靶向二代测序技术对一名37岁患有乳腺癌且有乳腺癌家族史的白种女性进行了研究。在该基因中发现了一个涉及外显子5和6的新型杂合缺失，导致产生了截短的PALB2蛋白。这些发现扩展了与PALB2相关的乳腺癌的突变谱，可能会改善基于突变的乳腺癌筛查和基因诊断。
