BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome

Preferred Label : BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome;

NCIt synonyms : Site Specific Early Onset Breast Cancer Syndrome; BRCA 2 Syndrome;

NCIt related terms : BRCA2 Syndrome;

NCIt definition : An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA2 gene. Patients are at high risk of developing female and male breast cancer, ovarian cancer, and other cancers including prostatic cancer, pancreatic cancer, gastric cancer, and melanoma.;

Details

Origin ID

C36101;

UMLS CUI

C1332443;

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]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Deleterious BRCA Gene Mutation [NCIt concept]
- Deleterious BRCA2 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- BRCA2 Gene [NCIt concept]
disease_may_have_associated_disease
- Breast Carcinoma [NCIt concept]
- Exocrine Pancreas Carcinoma [NCIt concept]
- Fallopian Tube Carcinoma [NCIt concept]
- Female Breast Carcinoma [NCIt concept]
- Gallbladder Carcinoma [NCIt concept]
- Gastric Carcinoma [NCIt concept]
- Melanoma [NCIt concept]
- Ovarian Carcinoma [NCIt concept]
- Prostate Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- BRCA2 Gene [NCIt concept]
- BRCA2 wt Allele [NCIt concept]
related_to_genetic_biomarker
- BRCA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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