EPCAM and colorectal carcinoma: The study of large germ-line rearrangements in EPCAM of patient #12 showed a heterozygous deletion of a region of 15 Kb, which included exons 8 and 9 of EPCAM, located 2.5-Kb upstream from the start codon of MSH2. The analyzed CRC showed methylation of the promoter region of MSH2, which would be induced by the large deletion of the EPCAM-intergenic region EPCAM-MSH2 and would explain the absence of MSH2 protein expression.