Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

Abstract excerpt

Lynch syndrome (LS) is characterized by the development of mismatch repair–deficient (dMMR) colorectal and endometrial cancers at a young age in life. LS is caused by germline pathogenic variants (PVs) in 1 of the MMR genes MLH1, MSH2, MSH6, or PMS2 or deletions affecting the 3′ region of EPCAM.1 Current germline diagnostics for LS include targeted short-read sequencing and multiplex ligation-dependent probe...

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