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Hereditary breast and ovarian cancer syndrome (HBOC)

This page was reviewed under our medical and editorial policy by

Eric Fowler, MS, LCGC, Manager, Clinical Genetics, Western Region, CTCA Chicago.

This page was reviewed on January 4, 2022.

Hereditary breast and ovarian cancer syndrome (HBOC) is a condition that a person may inherit that increases the chance of developing certain cancers, including breast cancer and ovarian cancer. Having this condition does not mean a person will develop cancer, just that a person has a higher risk for certain cancers compare to people that do not have HBOC..

Along with breast and ovarian cancers, a person with HBOC has a higher risk for other types of cancer, though to a lesser degree, including:

Because it is inherited, HBOC is considered a familial cancer syndrome. Affected families may notice a few unique features, including:

  • The same type of cancer in multiple family members, even rare cancers
  • Cancer that develops at a younger-than-usual age
  • Multiple cancer types in one person
  • Cancer that’s found in organ pairs, such as both breasts

What are the risk factors for HBOC?

 HBOC occurs when you have a genetic mutation, or change, in the BRCA1 or BRCA2 genes. A gene mutation is a gene change that occurs, and it affects how those genes work in the cells, causing problems in certain areas of your body.

BRCA1 mutations: Women with HBOC and a BRCA1 mutation have a 56 percent to 87 percent chance of developing breast cancer and a 35 percent to 50 percent chance of developing ovarian cancer, according to the Genetic and Rare Diseases Information Center (GARD). Men have a 1 to 2  percent chance of developing breast cancer and are more at risk of developing prostate cancer.

With a BRCA1 mutation and HBOC, a person also has an increased chance to develop cancers such as:

  • Second primary breast cancer
  • Ovarian/fallopian tube/primary peritoneal
  • Pancreatic

BRCA2 mutations: With HBOC and a BRCA2 genetic mutation, your chances of breast and ovarian cancer are smaller than with BRCA1. There’s a 55 percent to 85 percent chance of breast cancer and a 56 percent to 85 percent chance of ovarian cancer, according to the GARD. Men have a 6 percent to 8 percent chance of developing breast cancer and face a higher risk for prostate cancer.

Those with BRCA2 mutations/HBOC may also develop other types of cancer, including:

Ashkenazi Jewish descent: HBOC affects all races and genders. However, about one in 40 people of Ashkenazi Jewish ancestry may have HBOC, compared with one in 400 to one in 800 people in the general population, according to the National Organization of Rare Disorders.

Screening for HBOC

If HBOC is suspected, your doctor may recommend  genetic testing and encourage you to meet with a genetic counselor to discuss the benefits, risk, and limitations of testing. You may be asked to provide a full family history of family members with cancer, including:

  • Parents
  • Siblings
  • Children
  • Grandparents
  • Aunts and uncles
  • Nieces and nephews
  • Cousins

If you have a BRCA1 or BRCA2 mutation, screening typically involves several tests and exams. Screening should include breast exams performed by a doctor twice a year starting at age 25, along with recommendations for monthly breast self-exams starting at 18 years old. You may also have:

  • Annual magnetic resonance imaging (MRI) scans starting around age 25
  • Annual breast MRIs and mammograms starting at age 30
  • Pelvic examsultrasounds and blood testing (CA-125) twice a year starting at age 30-35.
  • However, women with BRCA1 and BRCA2 mutation may consider preventive surgeries to reduce the risk for cancer, such as risk-reducing bilateral mastectomies and risk reducing salpingo-oophorectomy.
  • Men with BRCA1 and BRCA2 mutations should have yearly clinical breast exams starting at age 35 years and yearly mammograms if they have significant breast tissue starting at the age of 50.
  • Men should start receiving prostate cancer at the age of 40 years
  • Individuals should discuss options for pancreatic cancer screening with their physician if they have a family history
  • Screening for melanoma can include annual full-body skin examination and limiting UV exposure

How HBOC is detected

Doctors review a person’s  family history looking for unique features that are  characteristic of this condition.

Performing genetic testing for a BRCA1/2 mutation may confirm a HBOC diagnosis. In order to find out if a person has a BRCA1 or BRCA2 gene mutation, a person can undergo a blood or saliva test, which  is covered by most insurances. Most of these mutations are found through this type of testing, known as gene sequencing and deletion/duplication testing. However, there are other genes that can increase the risk for breast and/or ovarian cancer, and multi-gene testing panels may be more appropriate. Multi-gene testing panels simultaneously look for mutations in multiple genes that contribute to an increased risk of cancer.

A negative result for the BRCA1/2 genes means a person may have a different cause for their cancer including a mutation in another gene or due to environment factors.

However, if the results are positive and show a person does have a genetic mutation, a personalized screening plan should be developed.

You may be wondering if you have an increased risk for HBOC, and if so, consider having a conversation with your doctor. He or she may help you figure out whether further steps are needed and create a screening plan.

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