DR-472 Identification of CN-LOH in CRC

Patients with colorectal cancer (CRC) often have major alterations in the genomic information. These mutations are traditionally assessed to occur on one of the two alleles (heterozygous), with the normal variant being silenced in some way. This leads to a Variant Allele Frequency (VAF) of ~0.5. However, due to a noticeably high VAF of the mutations in some patients, it is suspected that some mutations can be copied onto the other allele, by the process of Copy Neutral Loss of Heterozygosity (CN-LOH). This process has been thought to predict prognosis and give a growth advantage in other cancer types and needs to be studied further to determine its significance in colorectal cancer and help understand the tumor characteristics of these patients.

Jan Paul Medema, Amsterdam UMC, the Netherlands