PDF(Pubmed)
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.
摘要：
BRCA2（PALB2）的伴侣和定位子是主要的BRCA2结合伴侣，其响应DNA双链断裂而参与同源重组修复。PALB2基因的种系改变最近与发展乳腺癌的高风险相关。我们使用靶向下一代测序研究了一名37岁的白人女性，患有乳腺癌和乳腺癌家族史。在PALB2基因中发现了一个涉及外显子5和6的新杂合缺失，并导致产生截短的PALB2蛋白。这些发现扩大了PALB2相关乳腺癌的突变谱，并可能改善乳腺癌的基于突变的筛查和遗传诊断。
