Colon cancer diagnosed in 41-year-old woman with mosaic NF1 variant Skip to content The CRC Digest ◇ RESEARCH Colon cancer diagnosed in 41-year-old woman with mosaic NF1 variant A case report describes a 41-year-old woman with a mosaic monoallelic germline pathogenic NF1 variant who developed colon cancer, highlighting the underreported relationship between NF1 variation and colorectal cancer risk. (Explor Neurosci) This
39-year-old proband with Lynch syndrome shows discordant tumor testing Skip to content The CRC Digest ◇ RESEARCH 39-year-old proband with Lynch syndrome shows discordant tumor testing A 39-year-old man with colorectal cancer and family history fulfilling Amsterdam criteria carried the germline MLH1 c.931A>G variant, with tumors showing MSI-H status despite retained MMR protein expression. (Clinical Case Reports)
Lynch syndrome family shows MSI-H tumors despite preserved MMR protein staining Skip to content The CRC Digest ◇ RESEARCH Lynch syndrome family shows MSI-H tumors despite preserved MMR protein staining A family carrying germline MLH1 c.931A>G presented with colorectal tumors showing retained mismatch repair protein expression by immunohistochemistry but microsatellite instability-high status on sequencing, highlighting that preserved staining does
Lynch syndrome diagnosis rate in China far below expected prevalence Skip to content The CRC Digest Lynch syndrome diagnosis rate in China far below expected prevalence A national survey of 81 physicians from 81 Chinese hospitals found a Lynch syndrome diagnosis rate of only 0.83% versus the expected 2-3%, despite 95.1% of hospitals offering dMMR immunohistochemistry. (Familial Cancer)