Germline Alterations in Patients With IBD-associated Colorectal Cancer.
Giuseppe BiscagliaAnna LatianoStefano CastellanaRosanna FontanaAnnamaria GentileTiziana LatianoGiuseppe CorritoreAnna PanzaMarianna NardellaGiuseppina MartinoFabrizio BossaFrancesco PerriTommaso MazzaAngelo AndriulliOrazio PalmieriPublished in: Inflammatory bowel diseases (2021)
In silico analysis and sequence-based testing of germline DNA from IBD patients with CRC or high-grade dysplasia detected 24% of variants positioned in pathogenic classes. In patients with type 3, 4, and 5 variants, the onset of high-grade dysplasia or CRC was significantly earlier than in patients with benign or unidentified variants. The screening for these genes could identify IBD patients requiring a more intensive endoscopic surveillance for earlier detection of dysplastic changes.