Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a 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

As per scientific convention, the short names of genes are italicized i.e. BRCA1, but not their long names, i.e. breast cancer 1, and not their protein products which remain in plain font i.e. "BRCA1 protein" or "breast cancer 1 protein".

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

BRCA1 and BRCA2 are tumor 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

Article information

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

ADVERTISEMENT: Supporters see fewer/no ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.