ﺑﺎﺯﮔﺸﺖ ﺑﻪ ﺻﻔﺤﻪ ﻗﺒﻠﯽ
خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -4 مورد

Implications of a pathogenic or likely pathogenic variant in the exonuclease domain of POLD1 or POLE

Implications of a pathogenic or likely pathogenic variant in the exonuclease domain of POLD1 or POLE
Clinical manifestation Management implications
Colorectal polyposis
  • Surveillance colonoscopy starting at age 25 to 30 years (earlier if first-degree relatives have developed polyposis at an earlier age)
  • Polypectomy when feasible
  • Consider colectomy if polyposis is extensive (>100 polyps or some individuals with 10 to 100 polyps), cannot be managed by polypectomy, symptoms such as severe bleeding, or patient preference
Colorectal cancer
  • Extensive colectomy and post-colectomy surveillance
  • Inclusion of immune checkpoint inhibitor therapy in chemotherapy regimen
Duodenal polyposis
  • Surveillance upper endoscopy and duodenoscopy starting at age 25 to 30 years; repeat every 3 years or more frequently if adenomas are found
Other cancers
  • Surveillance based on cancers seen within the kindred
Autosomal dominant inheritance (first-degree relatives have a 50% chance of inheriting the pathogenic variant)
  • Counseling and testing of close relatives* with cascade testing
  • Reproductive counseling and testing
Refer to UpToDate for details of terminology and hereditary colorectal cancer syndromes.
* Typically starts with first-degree relatives (parents, siblings, children). Cascade testing involves identifying the first-degree relatives that carry the pathogenic variant(s) and then testing of their first-degree relatives.
Graphic 145656 Version 2.0