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Hereditary breast and/or ovarian cancer syndrome

Disease definition

A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Elderly
  • ICD-10: C50.9  C56
  • ICD-11: 2C65
  • OMIM: 604370  612555  613399  614291
  • UMLS: C0677776
  • MeSH: D061325
  • GARD: -
  • MedDRA: -

Detailed information

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Disease review articles

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.