Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing
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Epithelial cell adhesion molecule (EPCAM)-associated Lynch syndrome arises from deletions at the 3'-end of EPCAM that disrupt transcriptional termination, generate read-through transcripts and cause epigenetic silencing of MSH2 in EPCAM-expressing tissues. Ho... ...
