Figure 2.

Sequence analysis of BRCA2 mutants. A. Examination of the sequencing reads in Integrative Genomic Viewer (IGV) software revealed the germline and five newly acquired BRCA2 mutations in plasma and/or liver tumor biopsies. Bases that do not match to the reference genome due to point mutation or insertion are color coded, whereas deletions are indicated as a black dash (-). B. Diagram of BRCA2 protein domain structures caused by gBRCA2m and newly acquired BRCA2 mutations in treatment-resistance samples. C. NGS based RT-PCR analysis of the two long-range deletions were reviewed using IGV. Bases that do not match to the reference sequence are color coded. WT, wild type. *, germline mutation.