Details of Disease

General Information of Disease (ID: DISHX3FO)

• Disease Name: Breast-ovarian cancer, familial, susceptibility to, 3
• Synonyms: ovarian cancer, familial, susceptibility to, 3; susceptibility to familial breast-ovarian cancer 3; breast cancer, familial, susceptibility to, 3; BROVCA3; hereditary breast ovarian cancer syndrome caused by mutation in RAD51C; RAD51C hereditary breast ovarian cancer syndrome; hereditary breast ovarian cancer syndrome caused by mutation in Rad51C; Rad51C hereditary breast ovarian cancer syndrome; breast-ovarian cancer, familial, susceptibility to, type 3; breast-ovarian cancer, familial, susceptibility to, 3
• Definition: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.
• Disease Hierarchy:
  DISHJXS0: Breast-ovarian cancer, familial, susceptibility to
  DIS98MYE: Inherited disease susceptibility
  DISHX3FO: Breast-ovarian cancer, familial, susceptibility to, 3
• Disease Identifiers:
  MONDO ID: MONDO_0013253
  UMLS CUI: C3150659
  OMIM ID: 613399
  MedGen ID: 462009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAD51C	OTUD6SY5	Definitive	Autosomal dominant	[1]
RAD51D	OTKOU5XN	Definitive	Autosomal dominant	[2]

References

• [1] Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet. 2010 May;42(5):410-4. doi: 10.1038/ng.569. Epub 2010 Apr 18.
• [2] Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. J Clin Oncol. 2015 Sep 10;33(26):2901-7. doi: 10.1200/JCO.2015.61.2408. Epub 2015 Aug 10.