Details of Disease

General Information of Disease (ID: DIS75QET)

Disease Name Breast-ovarian cancer, familial, susceptibility to, 1
Synonyms
ovarian cancer, familial, susceptibility to, 1; BROVCA1; breast cancer, familial, susceptibility to, 1; susceptibility to familial breast-ovarian cancer 1; breast-ovarian cancer, familial, susceptibility to, type 1; breast-ovarian cancer, familial, susceptibility to, 1; BRCA1 hereditary breast ovarian cancer syndrome; hereditary breast ovarian cancer syndrome caused by mutation in BRCA1; breast-ovarian cancer, familial, 1, multifactorial
Definition Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.
Disease Hierarchy
DISHJXS0: Breast-ovarian cancer, familial, susceptibility to
DIS98MYE: Inherited disease susceptibility
DIS75QET: Breast-ovarian cancer, familial, susceptibility to, 1
Disease Identifiers
MONDO ID
MONDO_0011450
UMLS CUI
C2676676
OMIM ID
604370
MedGen ID
382914

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BRCA1 OT5BN6VH Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.