Figure 6. Exome Mutations in the in situ and Invasive Regions.

Exome sequencing of laser-capture microdissected in situ and invasive regions. (A) Bar plot of exonic mutation frequencies detected in the in situ and invasive regions of 10 DCIS-IDC patients. (B) Oncomap of nonsynonymous mutations in the in situ and invasive regions from each patient. The presence or absence of mutations has been updated based on the results from amplicon deep-sequencing validation data. Known breast cancer genes are indicated in bold, while mutations that were validated by deep-amplicon sequencing are in italics. Inset panels show examples of brightfield images of in situ or invasive regions isolated by laser-capture-microdissection. (C) Amplicon targeted deep-sequencing of in situ-specific mutations. (D) Amplicon targeted deep-sequencing of the invasive-specific mutations.