BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome

Preferred Label : BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome;

NCIt synonyms : Early Onset Breast Ovarian Cancer Syndrome; BRCA 1 Syndrome;

NCIt related terms : BRCA1 Syndrome;

NCIt definition : An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 gene. Patients are at high risk of developing breast cancer, ovarian cancer, and other cancers including cervical, endometrial, fallopian tube, and colon cancer.;

Details

Origin ID

C36100;

UMLS CUI

C1332442;

Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Deleterious BRCA Gene Mutation [NCIt concept]
- Deleterious BRCA1 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- BRCA1 Gene [NCIt concept]
disease_may_have_associated_disease
- Breast Carcinoma [NCIt concept]
- Cervical Carcinoma [NCIt concept]
- Colon Carcinoma [NCIt concept]
- Endometrial Carcinoma [NCIt concept]
- Fallopian Tube Carcinoma [NCIt concept]
- Female Breast Carcinoma [NCIt concept]
- Hepatocellular Carcinoma [NCIt concept]
- Ovarian Carcinoma [NCIt concept]
- Primary Peritoneal Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- BRCA1 Gene [NCIt concept]
- BRCA1 wt Allele [NCIt concept]
related_to_genetic_biomarker
- BRCA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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