Genomic Sequencing of Breast Carcinoma

This study combined whole exome (103 samples) and whole genome (22 samples) sequencing over a total of 108 breast tumors and matched normal DNA to identify novel mutations and translocations. Samples were subjected to paired-end Illumina sequencing with goal of 30x coverage of tumor/normal for whole genomes and 100x tumor/normal coverage for whole exomes. From these sequences, we used various computational techniques to identify somatic point mutations, insertion/deletions and structural rearrangements in these tumors. From these data, we identified new insights into the rates of background mutations in these cancers, novel recurrent mutated genes, and multiple gene rearrangements. One of these rearrangements appears to be a recurrent event in breast cancer.

本研究整合了全外显子组（103例样本）与全基因组（22例样本）测序数据，共涵盖108例乳腺肿瘤及配对正常DNA样本，旨在识别新型突变与染色体易位。所有样本均采用双端Illumina测序技术，设定的测序覆盖度目标为：全基因组水平下肿瘤与正常样本各30倍，全外显子组水平下肿瘤与正常样本各100倍。基于上述测序数据，本研究运用多种计算技术鉴定了这些肿瘤中的体细胞点突变、插入缺失变异及结构重排。通过该数据集，我们对这类乳腺癌的背景突变率获得了全新认知，同时发现了新的复发性突变基因与多种基因重排事件，其中一类重排在乳腺癌中表现为复发性特征。