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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:BRCA2 mutation carier statu
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Accession:EFO:0011022 term browser browse the term
Definition:Determination of the presence or absence of known harmful mutation(s) in the BRAC2 gene. BRCA1/BRCA2 genes play a central role in DNA repair and their mutations increase sensitivity to DNA-damaging agents. BRCA1/BRCA2 germline mutations significantly increase the risk of breast and ovarian cancer.
Synonyms:exact_synonym: BRCA2 carrier status;   BRCA2 mutation status
 xref: PMID:33597508
 external_ontology: is_about EFO:MONDO:0007254;   is_about EFO:MONDO:0008170


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