Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes: Cereda et al (2016)

 

Synchronous colorectal cancers (syCRCs) are physically separated tumours that develop simultaneously. To understand how the genetic and environmental background influences the development of multiple tumours, here we conduct a comparative analysis of 20 syCRCs from 10 patients. We show that syCRCs have independent genetic origins, acquire dissimilar somatic alterations, and have different clone composition. This inter- and intratumour heterogeneity must be considered in the selection of therapy and in the monitoring of resistance. SyCRC patients show a higher occurrence of inherited damaging mutations in immune-related genes compared to patients with solitary colorectal cancer and to healthy individuals from the 1,000 Genomes Project. Moreover, they have a different composition of immune cell populations in tumour and normal mucosa, and transcriptional differences in immune-related biological processes. This suggests an environmental field effect that promotes multiple tumours likely in the background of inflammation.

Nature

Source: Nature Communications (2016)

 


References:

Cereda, M., Gambardella, G., Benedetti, L., Iannelli, F., Patel, D., Basso, G., … Ciccarelli, F. D. (2016). Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes. Nature Communications, 7, 12072. doi:10.1038/ncomms12072

About Vikrant Palande

Hello, this is Vikrant. I am a PhD student at Bar Ilan University, Faculty of Medicine in the Galilee. My principal scientific interests are Cancer genomics and its diagnostic applications. I am involved in studying clinical relevance of cell-free circulating DNA (cfDNA) for diagnosis, staging, prognosis and therapeutic monitoring of Gliomas Tumors.