PALB2 Hereditary Breast Carcinoma

Preferred Label : PALB2 Hereditary Breast Carcinoma;

NCIt synonyms : PALB2-Mutated Breast Carcinoma; PALB2-Associated Breast Carcinoma; PALB2 Familial Breast Cancer; PALB2 Hereditary Breast Cancer; PALB2 Familial Breast Carcinoma;

NCIt definition : Hereditary breast carcinoma caused by deleterious germline mutation in the PALB2 gene.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL972420;

Details

Origin ID

C167193;

UMLS CUI

C5238350;

Disease excludes abnormal cell
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
Has associated anatomic sites
- Breast [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_excludes_molecular_abnormality
- BRCA Gene Mutation [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
disease_has_finding
- Carcinomatous Component Present [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- Deleterious PALB2 Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
- Mammary Epithelium [NCIt concept]
disease_has_primary_anatomic_site
- Breast [NCIt concept]
pathogenesis_of_disease_involves_gene
- PALB2 Gene [NCIt concept]
- PALB2 wt Allele [NCIt concept]

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