BRCA2 mutation carier statu
http://purl.obolibrary.org/obo/EFO_0011022
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. [ doi:10.1001/jama.2017.7112 ]
Term info
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.
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BRCA2 mutation status, BRCA2 carrier status
Elizabeth Lewis