Hernan I, Mañé B, Borràs E, de Sousa Dias M, Llort G, Yagüe C, Gamundi M J, Arcusa À, Carballo M
Molecular Genetics Unit, Hospital de Terrassa, Ctra.Torrebonica, 08227, Terrassa, Barcelona, Spain,
Clin Transl Oncol. 2015 Jul;17(7):576-80. doi: 10.1007/s12094-014-1271-x. Epub 2015 Jan 14.
To analyze BRCA1 and BRCA2 genes using a cost-effective and rapid approach based on next generation sequencing (NGS) technology.
A population of Spanish cancer patients with a personal or familial history of breast and/or ovarian cancer was analyzed for germline mutations in BRCA1 and BRCA2 genes. The methodology relies on a 5 multiplex PCR assay coupled to NGS.
Ten pathogenic mutations (four in BRCA1 and six in BRCA2 gene) were identified in a Spanish population. The deletion c.1792delA, in exon 10, and the duplication c.5869dupA, in exon 11 of BRCA2 gene were not previously reported and should be considered as pathogenic due to its frameshift nature.
Two novel frameshift mutations in BRCA2 gene were detected using the multiplex PCR-based assay following by NGS.
基于下一代测序（NGS）技术，采用一种经济高效且快速的方法分析BRCA1和BRCA2基因。
对一组有个人或家族性乳腺癌和/或卵巢癌病史的西班牙癌症患者进行BRCA1和BRCA2基因种系突变分析。该方法依赖于一种与NGS相结合的5重多重PCR检测。
在西班牙人群中鉴定出10个致病突变（BRCA1基因中有4个，BRCA2基因中有6个）。BRCA2基因第10外显子的c.1792delA缺失和第11外显子的c.5869dupA重复此前未被报道，因其移码性质应被视为致病突变。
采用基于多重PCR随后进行NGS的检测方法，在BRCA2基因中检测到两个新的移码突变。
