Hereditary Tumor Syndrome Associated with Homologous Recombination Pathway Mutations

Preferred Label : Hereditary Tumor Syndrome Associated with Homologous Recombination Pathway Mutations;

NCIt synonyms : Hereditary Homologous Recombination Cancer Syndrome;

NCIt definition : A hereditary neoplastic syndrome characterized by germline mutations of homologous recombination (HR) pathway genes. It is associated with an increased risk of developing various malignancies including breast, ovarian, pancreatic, and prostate carcinoma, and melanoma.;

NCI Metathesaurus CUI : CL1912581;

Details

Origin ID

C192671;

UMLS CUI

C5785366;

Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Homologous Recombination Repair Gene Mutation [NCIt concept]
disease_may_have_associated_disease
- Breast Carcinoma [NCIt concept]
- Exocrine Pancreas Carcinoma [NCIt concept]
- Melanoma [NCIt concept]
- Ovarian Carcinoma [NCIt concept]
- Prostate Carcinoma [NCIt concept]

Keyword's position in hierarchy(ies) :

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