Colonoscopy screening shows differential benefit in Lynch syndrome by gene Skip to content The CRC Digest ▪ SCREENING Colonoscopy screening shows differential benefit in Lynch syndrome by gene More frequent colonoscopy screenings resulting in an increased number of adenomas detected effectively reduces CRC risk in those with a pathogenic variant in MSH2, but MLH1 carriers did not experience the same benefit;
Colorectal neoplasia detected at young age in Li-Fraumeni syndrome surveillance Skip to content The CRC Digest ▪ SCREENING Colorectal neoplasia detected at young age in Li-Fraumeni syndrome surveillance In seven women with Li-Fraumeni syndrome, colorectal neoplasia was detected in five patients at a median age of 32.5 years, including one colorectal cancer at age 32 and three advanced adenomas; four
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)