Oncogenetics Laboratory, University Hospital Vall d'Hebron, 08035, Barcelona, Spain.
Breast Cancer Res Treat. 2010 Sep;123(2):587-90. doi: 10.1007/s10549-010-0830-2. Epub 2010 Mar 16.
We report a novel complex mutation that consists of a deletion of 12 bp and an insertion of 2 bp (c.8402_8413del12ins2bp) in the exon 18 of the BRCA2 gene. This is a frameshift mutation that causes a disruption of the translational reading frame resulting in a stop codon downstream in the 2729 position of the BRCA2 protein. The mutation was present in a Spanish hereditary male/female breast cancer family.
我们报告了一种新的复杂突变，该突变由 BRCA2 基因外显子 18 中的 12 个碱基缺失和 2 个碱基插入（c.8402_8413del12ins2bp）组成。这是一种移码突变，导致翻译阅读框架中断，从而在 BRCA2 蛋白的 2729 位下游产生一个终止密码子。该突变存在于一个西班牙遗传性男性/女性乳腺癌家族中。
