# OnCo record founder-mutation (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/founder-mutation/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "founder-mutation" ;
  schema:name "Founder mutation (BRCA1 185delAG and 5382insC, BRCA2 6174delT)"@en ;
  schema:alternateName "Founder variant"@en, "Ashkenazi BRCA founder mutations"@en, "BRCA1 185delAG"@en, "BRCA1 5382insC"@en, "BRCA2 6174delT"@en, "Population-specific BRCA mutation"@en ;
  schema:description "A founder mutation is a single inherited gene fault that many people in one population share because they descend from the same ancestor who carried it. The best known are three BRCA faults carried by about one in forty Ashkenazi Jews, which is why Jewish ancestry is one of the family history flags in UK genetics referral rules."@en ;
  schema:url <https://onco.cc/terms/founder-mutation/> ;
  schema:dateModified "2026-09-24"^^xsd:date ;
  schema:sameAs <https://en.wikipedia.org/wiki/Founder_effect> ;
  schema:citation <https://doi.org/10.1038/ng1096-185>, <https://doi.org/10.1056/nejm199705153362001>, <https://www.nice.org.uk/guidance/cg164/chapter/Recommendations>, <https://www.cancerresearchuk.org/about-cancer/breast-cancer/risks-causes/family-history-and-inherited-genes>, <https://doi.org/10.1200/jco.2008.16.6231> ;
  onco:tag "breast", "tnbc" ;
  onco:cancers <https://onco.cc/cancers/tnbc/>, <https://onco.cc/cancers/brca-associated-tnbc/>, <https://onco.cc/cancers/breast-cancer/>, <https://onco.cc/cancers/ovarian/> ;
  onco:technologies <https://onco.cc/technologies/germline-testing/> ;
  onco:targets <https://onco.cc/targets/brca/> ;
  onco:terms <https://onco.cc/terms/germline-brca-testing-criteria-tnbc/>, <https://onco.cc/terms/germline-vs-somatic/> .