Hereditary breast and ovarian cancer syndrome (HBOC)

The information on this page was reviewed and approved by
Maurie Markman, MD, President, Medicine & Science at CTCA.

This page was updated on September 21, 2021.

Hereditary breast and ovarian cancer syndrome (HBOC) is a condition you can inherit that ups your chances of developing certain cancers, including breast and ovarian. Having this condition doesn't mean you’ll develop cancer, just that you face a higher risk than those who don’t have this syndrome.

Along with HBOC, you also may be at a higher risk for other types of cancer, though to a lesser degree, including:

Because it may be inherited, HBOC is considered a family 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 or kidneys 
  • Siblings with more than one childhood cancer type, such as leukemia

What are the risk factors for HBOC?

Most of the time, HBOC occurs when you have a genetic mutation, or change, in the BRCA1 or BRCA2 genes. A gene mutation is an abnormal change that occurs and 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 57 percent to 60 percent chance of breast cancer and a 40 percent to 59 percent chance of ovarian cancer, according to the Genetic and Rare Diseases Information Center (GARD). Men have a 1 percent chance of breast cancer and are more at risk of developing prostate cancer.

With a BRCA1 mutation and HBOC, you may also develop cancers such as:

  • Cervical
  • Esophageal
  • Fallopian tube
  • Pancreatic
  • Stomach
  • Uterine

BRCA2 mutations: With HBOC and a BRCA2 genetic mutation, your chances of breast and ovarian cancer are smaller than with BRCA1. There’s a 49 percent to 55 percent chance of breast cancer and a 16 percent to 18 percent chance of ovarian cancer, according to the GARD. Men have a 6 percent chance of developing breast cancer and face a higher risk for prostate cancer.

Those with BRCA2 HBOC may also get 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 200 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 order a screening test as well as genetic 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

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

How HBOC is detected

There isn't a specific test that shows HBOC. Instead, the doctor reviews your family history looking for unique features that characterize this condition.

Performing genetic testing for a BRCA mutation may confirm a HBOC diagnosis. In order to find out if you have a BRCA1 or BRCA2 genetic mutation, you may undergo a blood or saliva test, which may be covered by insurance. Most of these mutations are found through this type of testing, known as standard gene sequencing.

A negative result for the BRCA genes means you may have a different cause for your cancer.

However, if your results come back showing you do have a genetic mutation, your care team may develop a personalized plan for further screening. Usually, a genetic counselor is involved in your care.

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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