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Germline Alterations in Patients With IBD-associated Colorectal Cancer.

Giuseppe BiscagliaAnna LatianoStefano CastellanaRosanna FontanaAnnamaria GentileTiziana LatianoGiuseppe CorritoreAnna PanzaMarianna NardellaGiuseppina MartinoFabrizio BossaFrancesco PerriTommaso MazzaAngelo AndriulliOrazio Palmieri
Published 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.
Keyphrases
  • high grade
  • copy number
  • low grade
  • end stage renal disease
  • newly diagnosed
  • ejection fraction
  • chronic kidney disease
  • dna repair
  • public health
  • genome wide
  • peritoneal dialysis
  • ulcerative colitis
  • real time pcr