Hereditary breast–ovarian cancer syndrome

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Hereditary breast–ovarian cancer syndrome
Ovarian and breast cancer patients in a pedigree chart of a family
Specialty Obstetrics and gynaecology, Endocrinology, Dermatology, Oncology, Medical genetics Edit this on Wikidata

Hereditary breast–ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal levels of breast cancer and ovarian cancer in genetically related families (either one individual had both, or several individuals in the pedigree had one or the other disease). The hereditary factors may be proven or suspected to cause the pattern of breast and ovarian cancer occurrences in the family.[1]


Approximate proportion of hereditary breast cancer cases caused by each gene

  BRCA1 mutations (28%)
  BRCA2 mutations (19%)
  All other known genes (8%)
  Unknown genes or multiple genes (45%)

A number of genes are associated with HBOC.[2] The most common of the known causes of HBOC are:

  • BRCA mutations:[2] Harmful mutations in the BRCA1 and BRCA2 genes can produce very high rates of breast and ovarian cancer, as well as increased rates of other cancers. Mutations in BRCA1 are associated with a 39-46% risk of ovarian cancer and mutations in BRCA2 are associated with a 10-27% risk of ovarian cancer.[3]

Other identified genes include:

Approximately 45% of HBOC cases involve unidentified genes, or multiple genes.[2]


People with BRCA1 and BRCA2 mutations are recommended to have a transvaginal ultrasound 1-2 times per year. Screening with CA-125 is also recommended. Prophylactic salpingo-oophorectomy (removal of the ovaries and Fallopian tubes to prevent cancer) is recommended at age 35-40 for people with BRCA1 mutations and at age 40-45 for people with BRCA2 mutations.[3]


  1. ^ "Hereditary Breast Ovarian Cancer Syndrome (BRCA1 / BRCA2)". Stanford University. Retrieved 2008-09-02.
  2. ^ a b c d e f g h i j Morris, Joi L.; Gordon, Ora K. (Ora Karp) (2010). Positive results : making the best decisions when you're at high risk for breast or ovarian cance. Amherst, N.Y.: Prometheus Books. pp. 337–340. ISBN 978-1-59102-776-8.
  3. ^ a b Ring, Kari L.; Garcia, Christine; Thomas, Martha H.; Modesitt, Susan C. (November 2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. ISSN 1097-6868. PMID 28411145.

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