BRCA1 mutation carier status
http://purl.obolibrary.org/obo/EFO_0011021
Determination of the presence or absence of known harmful mutation(s) in the BRAC1 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 BRAC1 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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BRCA1 carrier status, BRCA1 mutation status
Elizabeth Lewis