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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/604370
http://purl.bioontology.org/ontology/OMIM/604370
|
|---|---|
| Preferred Name | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 |
| Synonyms |
BROVCA1
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
HBOC1
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
BROVCA1
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
HBOC1
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|---|---|
| prefLabel | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
| Gene Symbol |
PNCA4
BROVCA1
FANCS
BRCA1
PSCP
|
| Scope Statement | Lifetime risk of breast cancer in mutation carriers is 80 to 90% [MISCELLANEOUS]
Lifetime risk of ovarian cancer in mutation carriers is 40 to 50% [MISCELLANEOUS]
Increased risk of bilateral breast cancer [MISCELLANEOUS]
Mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age [MISCELLANEOUS]
Susceptibility conferred by mutation in the breast cancer 1 gene (BRCA1, 113705.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T033
|
| Gene Locus | 17q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 604370
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C2676677
C2676676
C2676678
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |