# OnCo record polymerase-proofreading-associated-polyposis (term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)". Whole corpus: https://onco.cc/api/v1/onco.nt
@prefix schema: <https://schema.org/> .
@prefix onco: <https://onco.cc/ns#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<https://onco.cc/terms/polymerase-proofreading-associated-polyposis/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "polymerase-proofreading-associated-polyposis" ;
  schema:name "Polymerase proofreading-associated polyposis"@en ;
  schema:alternateName "POLE polyposis"@en, "POLD1 polyposis"@en, "polymerase proofreading-related polyposis"@en ;
  schema:description "Polymerase proofreading-associated polyposis is a rare inherited condition, caused by a fault in the proofreading part of the POLE or POLD1 gene, that causes bowel polyps and early bowel cancer, and womb cancer with POLD1. Care is planned at a specialist centre because there are too few patients for a fixed schedule."@en ;
  schema:url <https://onco.cc/terms/polymerase-proofreading-associated-polyposis/> ;
  schema:dateModified "2026-11-04"^^xsd:date ;
  schema:sameAs <https://en.wikipedia.org/wiki/Polymerase_proofreading-associated_polyposis> ;
  schema:citation <https://doi.org/10.1136/gutjnl-2019-319915>, <https://doi.org/10.1158/1078-0432.ccr-23-3994>, <https://www.orpha.net/en/disease/detail/447877> ;
  onco:tag "gap-fill", "hereditary" ;
  onco:cancers <https://onco.cc/cancers/colorectal/>, <https://onco.cc/cancers/endometrial/> ;
  onco:technologies <https://onco.cc/technologies/germline-testing/> ;
  onco:targets <https://onco.cc/targets/pole/>, <https://onco.cc/targets/pold1/> ;
  onco:terms <https://onco.cc/terms/colonoscopy/>, <https://onco.cc/terms/hereditary-cancer-syndromes/> ;
  onco:keyPapers <https://onco.cc/key-papers/paper-palles-germline-pole-pold1-proofreading-nat-genet-2013/> .