# OnCo record constitutional-mismatch-repair-deficiency (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/constitutional-mismatch-repair-deficiency/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "constitutional-mismatch-repair-deficiency" ;
  schema:name "Constitutional mismatch repair deficiency (CMMRD)"@en ;
  schema:alternateName "CMMRD"@en, "constitutional mismatch repair deficiency syndrome"@en, "biallelic mismatch repair deficiency"@en, "BMMRD"@en, "mismatch repair cancer syndrome"@en, "Turcot syndrome"@en ;
  schema:description "Constitutional mismatch repair deficiency is a rare inherited condition in which a child has two faulty copies of a DNA spell-checking gene, one from each parent, and develops brain, blood and bowel cancers from early childhood. Six-monthly brain scans and early bowel checks find tumours sooner, and these cancers often respond to immunotherapy."@en ;
  schema:url <https://onco.cc/terms/constitutional-mismatch-repair-deficiency/> ;
  schema:dateModified "2026-11-04"^^xsd:date ;
  schema:sameAs <https://en.wikipedia.org/wiki/Mismatch_repair_cancer_syndrome> ;
  schema:citation <https://doi.org/10.1038/s41431-024-01708-6>, <https://doi.org/10.1158/1078-0432.ccr-23-3994>, <https://www.orpha.net/en/disease/detail/252202> ;
  onco:tag "gap-fill", "hereditary" ;
  onco:cancers <https://onco.cc/cancers/glioblastoma/>, <https://onco.cc/cancers/colorectal/> ;
  onco:technologies <https://onco.cc/technologies/whole-body-mri/>, <https://onco.cc/technologies/capsule-endoscopy-systems/>, <https://onco.cc/technologies/germline-testing/> ;
  onco:targets <https://onco.cc/targets/mlh1/>, <https://onco.cc/targets/msh2/>, <https://onco.cc/targets/msh6/>, <https://onco.cc/targets/pms2/> ;
  onco:terms <https://onco.cc/terms/lynch-syndrome/>, <https://onco.cc/terms/msi/>, <https://onco.cc/terms/colonoscopy/>, <https://onco.cc/terms/hereditary-cancer-syndromes/> .