Hereditary Breast and Ovarian Cancer Syndrome

Hereditary breast and ovarian cancer syndrome is the most common cause of hereditary breast and ovarian cancer. The condition affects both men and women and occurs in people from all ethnic and racial backgrounds.

HBOC syndrome is caused by mutations in the BRCA1 and BRCA2 genes, as well as other hereditary cancer genes. Women who inherit a mutation in the BRCA genes, or another hereditary cancer gene that increases your risk for breast and ovarian cancer, have a higher chance of developing breast and ovarian cancer. Men who inherit a mutation are more likely to develop breast and prostate cancer.

At The University of Kansas Cancer Center, the region’s only National Cancer Institute-designated cancer center, our certified genetic counselors offer genetic testing to identify individuals who have HBOC syndrome. Taking this step helps ensure that you receive appropriate cancer screening, which can improve the chances of preventing or diagnosing cancers early, when they are most treatable.

What is hereditary breast and ovarian cancer syndrome?

Hereditary breast and ovarian cancer syndrome is an inherited condition that increases the risk of developing certain cancers, particularly breast cancer, in both men and women, and ovarian cancer in women. Cancer often develops before the age of 50. HBOC also increases the risk of developing prostate cancer, melanoma and pancreatic cancer. HBOC syndrome is most commonly associated with mutations in the BRCA1 and BRCA2 genes, as well as other hereditary cancer genes that increase your risk for breast or ovarian cancer.

Most breast and ovarian cancers are sporadic, meaning they occur by chance with no known cause. Most women who have breast or ovarian cancer do not have HBOC.

It is estimated that about 2-3% of the general population has a mutation in the BRCA1 or BRCA2 genes. Up to 10% of women and 20% of men diagnosed with breast cancer have a mutation in one of these genes or another hereditary cancer-related gene.

Genetic testing can determine whether the genetic mutation for HBOC syndrome is present. However, having these factors in your family does not always mean you will develop HBOC syndrome.

Families at risk for HBOC syndrome may have:

• Onset of breast cancer before age 50
• Family history of both breast and ovarian cancer
• Increased risk of developing cancer in both breasts, both ovaries or to develop both breast and ovarian cancer
• Increased risk of developing tumors in other organs, such as the prostate

Other factors that increase your chances of having HBOC:

• Family history of male breast cancer
• Ashkenazi Jewish ancestry

Testing negative for a genetic mutation does not mean you aren't at increased risk. If you test negative for these genetic mutations, you may still be at high risk due to other factors and could be followed in our high- risk clinic.

If you and your doctor are concerned about HBOC syndrome, a genetic test can show whether you have inherited a mutation in the BRCA genes or another hereditary cancer-related gene. One of our certified genetic counselors can help you determine the best type of genetic testing, interpret your test results and determine appropriate next steps. If testing shows that you inherited a mutation, we recommend that other family members also get genetic testing to better determine their risk.

Talk to your doctor about your family health history and individual concerns to create a personalized cancer screening plan. At The University of Kansas Cancer Center, we use recognized risk-prediction models to determine what steps to take next.

Each mutation has a different stage for screening to begin. Your provider will take into consideration your family history and your personal history to arrive at a personalized screening plan for you. It may include:

• Monthly breast self-examinations
• Clinical breast examinations performed twice a year by a healthcare team or nurse
• Yearly MRI scans of both breasts
• Yearly mammogram and breast MRI
• Pelvic examination, trans-vaginal ultrasound and CA-125 blood test every 6 months
• Screening for ovarian cancer is not yet able to find most early cancers

Each mutation has a different stage for screening to begin. Your provider will take into consideration your family history and your personal history to arrive at a personalized screening plan for you. It may include:

• Monthly breast self-examinations
• Yearly clinical breast examinations
• Baseline mammogram for men with a BRCA2 gene mutation, if there is swelling of the breast tissue in boys or men or if enough breast tissue is present for a mammogram
• Annual prostate cancer screening with digital rectal exam and PSA blood test

Screening recommendations may change over time as new methods are developed and more is learned about HBOC. Talk with your healthcare team about the screening tests that are right for you.

If you’ve received a diagnosis of HBOC syndrome, you may be wondering what steps to take next. Genetic mutations that cause HBOC syndrome cannot be changed, but awareness is key in helping to manage the increased risk of HBOC-related cancers. Genetic counseling is essential for decision-making in HBOC treatment.

Several treatment options exist:

• Active surveillance as part of your treatment plan involves closely watching your condition but not giving any treatment unless there are changes in test results that show the condition is worsening.
• Chemoprevention involves giving preventive medications (chemoprevention) to reduce breast cancer risk in women at high risk of developing the disease.
• Risk-reducing mastectomy, which is known to decrease the risk of breast cancer by 90%.
• Prophylactic salpingo-oophorectomy (surgery to remove the ovaries and fallopian tubes) for women ages 35-40, or once you are done having children.

At The University of Kansas Cancer Center, we strive to provide the most advanced care possible. We offer a specialized high-risk breast cancer clinic, gynecologic oncology clinic and a high-risk breast and ovarian clinic for patients with HBOC syndrome. These clinics focus on primary prevention methods like mammography or gynecology screening, formulating surveillance plans and referrals for surgical intervention, if needed.

As an NCI-designated cancer center, we are committed to making a difference for patients using the latest, most advanced cancer treatments, innovative therapeutics and chemoprevention. In addition to standard care and treatments, we perform clinical research studies to help find better ways of preventing, diagnosing and treating various types of cancer.