Details of Disease

General Information of Disease (ID: DIS78HM9)

• Disease Name: Breast-ovarian cancer, familial, susceptibility to, 2
• Synonyms: ovarian cancer, familial, susceptibility to, 2; breast cancer, familial, susceptibility to, 2; susceptibility to familial breast-ovarian cancer 2; BROVCA2; BRCA2 hereditary breast ovarian cancer syndrome; breast-ovarian cancer, familial, 2; breast-ovarian cancer, familial, susceptibility to, 2; breast-ovarian cancer, familial, susceptibility to, type 2; hereditary breast ovarian cancer syndrome caused by mutation in BRCA2
• Definition: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.
• Disease Hierarchy:
  DISHJXS0: Breast-ovarian cancer, familial, susceptibility to
  DIS98MYE: Inherited disease susceptibility
  DIS78HM9: Breast-ovarian cancer, familial, susceptibility to, 2
• Disease Identifiers:
  MONDO ID: MONDO_0012933
  UMLS CUI: C2675520
  OMIM ID: 612555
  MedGen ID: 382625

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BRCA2	TTUARD6	Definitive	Autosomal dominant	[1]
BRCA2	TTUARD6	Definitive	CausalMutation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BRCA2	OTF1XSV1	Definitive	Autosomal dominant	[1]

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.
• [2] Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.