Hereditary breast and ovarian cancer syndrome

Dr Henry Knipe et al.

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast cancer or hereditary ovarian cancer

Epidemiology

Estimated prevalence of BRCA1/BRCA2 carriage is 1 in 550 (range 1 in 300-800) 3

Pathology

BRCA1 and BRCA2 are tumour suppressor genes that encode proteins involved in DNA repair. More than a thousand mutations to each gene have been detected, and cancer develops after inheritance of a mutated BRCA1/BRCA2 gene from one parent, followed by mutation to the second normal BRCA1/BRCA2 gene from the other parent ("two-hit hypothesis") 3.

The risk of specific cancer type above the general population risk varies depending on the mutation 1:

Breast imaging and pathology
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Article information

rID: 41959
Sections: Syndromes, Pathology
Synonyms or Alternate Spellings:
  • Hereditary breast and ovarian cancer syndrome (HBOC)
  • BRCA1 and BRCA2 hereditary breast and ovarian cancer

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