Breast cancer - CISMeF

Preferred Label : Breast cancer;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Breast cancer, familial;

Included titles and symbols : Breast cancer, familial male;

Description : Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Susceptibility conferred by mutation in the checkpoint kinase 2 gene (CHEK2, 604373.0007); Caused by mutation in the tumor protein p53 gene (TP53, 191170.0023); Caused by mutation in the BRCA1-associated C-terminal helicase 1 gene (BRIP1, 605882.0001); Caused by mutation in the breast cancer type 1 gene (BRCA1, 113705.0001); Caused by mutation in the solute carrier family 22, member 1-like gene (SLC22A1L, 602631.0001); Caused by mutation in the homolog of the S. cerevisiae RAD51A gene (RAD51A, 179617.0001); Caused by mutation in the breast cancer type 2 gene (BRCA2, 600185.0001);

Neoplasia : Breast carcinoma;

Prefixed ID : #114480;

Details

Origin ID

114480;

UMLS CUI

C0006142;

Automatic exact mappings (from CISMeF team)
- Familial cancer of breast (disorder) [SNOMED CT concept]
- Hereditary Breast Carcinoma [NCIt concept]
- breast cancer, familial [MeSH Supplementary Concept]
- breast cancer, familial [MeSH concept]
- breast cancer, familial male [MeSH concept]
- breast cancer, familial male [MeSH Supplementary Concept]
- breast neoplasms [MeSH Descriptor]
- malignant neoplasm breast female [ICPC-2 Rubric]
- malignant neoplasm male genital other [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Breast Carcinoma [NCIt concept]
- Breast cancer [PASCAL descriptor]
- Breast cancer [HPMULTI term]
- Breast cancer [MedDRA Preferred Term]
- Breast cancer NOS [MedDRA LLT]
- Breast carcinoma [HPO term]
- Breast carcinoma NOS [MedDRA LLT]
- Malignant neoplasm of breast (disorder) [SNOMED CT concept]
- Malignant neoplasms of breast [Bloc CIM-11]
- breast cancer [DO Concept]
- breast cancer [Disease (Nov.)]
- breast cancer [MedlinePlus Topic]
- breast cancer [MeSH concept]
- breast cancer [Radlex concept]
DO Cross reference
- breast cancer [DO Concept]
Genes related to phenotype
- Akt serine/threonine kinase 1 [OMIM gene]
- Atm serine/threonine kinase [OMIM gene]
- Brca1-associated ring domain 1 [OMIM gene]
- Brca1-interacting protein 1 [OMIM gene]
- Brca2 dna repair-associated protein [OMIM gene]
- Cadherin 1 [OMIM gene]
- Caspase 8, apoptosis-related cysteine protease [OMIM gene]
- Estrogen receptor 1 [OMIM gene]
- Hyaluronan-mediated motility receptor [OMIM gene]
- Kras protooncogene, gtpase [OMIM gene]
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
- Prohibitin [OMIM gene]
- Protein phosphatase, magnesium/manganese-dependent, 1d [OMIM gene]
- Rad51 recombinase [OMIM gene]
- Rad54-like [OMIM gene]
- Rb1-inducible coiled-coil 1 [OMIM gene]
- Solute carrier family 22 (organic cation transporter), member 18 [OMIM gene]
- Tumor protein p53 [OMIM gene]
- X-ray repair cross complementing 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Breast carcinoma [HPO term]
- Heterogeneous [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Hereditary breast cancer [ORDO Disease]
Related ORDO disease(s)
- Hereditary breast and ovarian cancer syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Breast cancer [MedDRA Preferred Term]
- Breast cancer NOS [MedDRA LLT]
- Breast cancer stage unspecified [MedDRA LLT]
- Breast tumor malignant [MedDRA LLT]
- Breast tumour malignant [MedDRA LLT]
- Malignant Breast Neoplasm [NCIt concept]
- Malignant breast neoplasm [MedDRA LLT]
- Malignant neoplasm of breast [ICD-10 category (who)]
- Malignant neoplasm of breast [ICD-10 category]
- Malignant neoplasm of breast [ICD-10 Sub-block (who)]
- Malignant neoplasm of breast (disorder) [SNOMED CT concept]
- breast cancer [MeSH concept]
- breast cancer [MedlinePlus Topic]
- breast cancer [DO Concept]
Validated automatic mappings to BTNT
- Childhood Breast Carcinoma [NCIt concept]
- Hereditary breast cancer [ORDO Disease]

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