CDH1-Associated Breast Carcinoma Syndrome

Preferred Label : CDH1-Associated Breast Carcinoma Syndrome;

NCIt synonyms : Hereditary Lobular Breast Cancer Syndrome; CDH1-Associated Breast Cancer Syndrome; Hereditary Lobular Breast Carcinoma Syndrome;

NCIt definition : A cancer susceptibility syndrome caused by inactivating germline mutations of the CDH1 gene. It is associated with the development of lobular carcinoma of the breast. Females with mutation of the CDH1 gene have a 40% risk of developing lobular breast carcinoma.;

NCI Metathesaurus CUI : CL1642635;

Details

Origin ID

C176628;

UMLS CUI

C5447335;

Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- CDH1 Gene Inactivation [NCIt concept]
disease_mapped_to_gene
- CDH1 Gene [NCIt concept]
disease_may_have_associated_disease
- Breast Lobular Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDH1 Gene [NCIt concept]
- CDH1 wt Allele [NCIt concept]
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- CDH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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