The molecular profile of primary breast cancer has been well-characterized; however, studies that analyze the genomic characteristics of relapsed or metastatic breast cancer and the correlation of genetic alteration between primary breast cancers are scarce. Therefore, researchers used whole-genome sequencing or a 365-gene panel to sequence 299 tumor samples from 170 relapsed or metastatic breast cancer patients to understand the genomic evolution during disease progression and to identify driver mutation profile in relapsed or metastatic breast cancer. The results showed that the genetic profiles of metastatic or relapsed breast cancer shared many mutations across primary tumors, indicating the spread of breast cancer may have similarities with primary tumors. Furthermore, there are some actionable genes detected specifically in metastatic cancers, including specific cancer signaling pathways involved in inactivation of SWI/SNF and JAK2/STAT3. These findings demonstrate that it is important to sequence metastatic tumors, so that we can understand their genetic profiles and can guide the following treatment strategies.
2. Publication: Cancer Cell. 2017 Aug 14; 32(2): 169–184.e7. doi: 10.1016/j.ccell.2017.07.005