Identification of chromosomal copy number variations and novel candidate loci in hereditary nonpolyposis colorectal cancer with mismatch repair proficiency

► We detect abnormal regions of the genome in MSS HNPCC by a powerful CNV array. ► A notably increased frequency of 20q gain and high levels of cnLOH were observed. ► 10 novel CNVs were discovered. ► WDR16 and RAPGEF5 may be involved in tumorigenesis. ► CNVs identified by Array analysis were highly concordant with the results of qPCR.