Deleterious BRCA Gene Mutation

Preferred Label : Deleterious BRCA Gene Mutation;

NCIt synonyms : Deleterious BRCA Gene Family Mutation; Deleterious BRCA Mutation; Deleterious BRCA Family Mutation;

NCIt definition : A change in the nucleotide sequence of a gene in the BRCA family that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL539339;

Details

Origin ID

C141233;

UMLS CUI

C4683642;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
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- BRCA Hereditary Breast Carcinoma [NCIt concept]
- BRCA Hereditary Ovarian Carcinoma [NCIt concept]
- BRCA-Associated Malignant Neoplasm [NCIt concept]
- BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- Metastatic BRCA Hereditary Breast Carcinoma [NCIt concept]
- Recurrent BRCA Hereditary Ovarian Carcinoma [NCIt concept]
molecular_abnormality_involves_gene
- BRCA Gene Family [NCIt concept]
- DNA Repair Gene [NCIt concept]
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- BRCA1 Gene [NCIt concept]
- BRCA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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