Hypermutated Colorectal Carcinoma

Preferred Label : Hypermutated Colorectal Carcinoma;

NCIt synonyms : Hypermutated Colorectal Cancer;

NCIt definition : A colorectal carcinoma characterized by a high mutational rate caused by DNA mismatch repair deficiency or POLE/POLD1 driver mutations.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL970724;

Details

Origin ID

C162256;

UMLS CUI

C5206465;

Disease excludes abnormal cell
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
Has associated anatomic sites
- Colorectal Region [NCIt concept]
- Digestive System [NCIt concept]
- Intestine [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Intermediate Grade Neuroendocrine Lesion [NCIt concept]
- Low Grade Neuroendocrine Lesion [NCIt concept]
- Well Differentiated Neuroendocrine Lesion [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]
- Hypermutated Sample [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
- Large Intestinal Mucosa [NCIt concept]
disease_has_primary_anatomic_site
- Colorectal Region [NCIt concept]
- Digestive System [NCIt concept]
disease_mapped_to_gene
- APC Gene [NCIt concept]
- BRAF Gene [NCIt concept]
- KRAS Gene [NCIt concept]
- TP53 Gene [NCIt concept]
disease_may_have_molecular_abnormality
- BRAF Gene Mutation [NCIt concept]
- Inactivating APC Gene Mutation [NCIt concept]
- KRAS Gene Amplification [NCIt concept]
- MYC Gene Mutation [NCIt concept]
- Mismatch Repair Gene Mutation [NCIt concept]
- POLD1 Gene Mutation [NCIt concept]
- POLE Gene Mutation [NCIt concept]
- TP53 Gene Inactivation [NCIt concept]

Keyword's position in hierarchy(ies) :

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