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Managing Hereditary Breast and Ovarian Cancer syndrome

In this section we will discuss screening, surgery and cancer prevention strategies.

If you’ve been diagnosed with Hereditary Breast and Ovarian Cancer syndrome, there are steps that you can take to reduce your risk of cancer or to detect cancer at an early stage. Because Hereditary Breast and Ovarian Cancer syndrome is associated is an increased risk of cancer, it’s important to learn about options for prevention and screening.

Cancer Screening

Screening tests are tests that are designed to detect cancer prior to the presence of any symptoms. The National Comprehensive Cancer Network (NCCN) provides a set of screening guidelines for individuals with Hereditary Breast and Ovarian Cancer syndrome. You can read 1.2016 NCCN guidelines here v1.2016 Hereditary Breast and Ovarian Cancer NCCN Guidelines . Depending on your unique situation, one or more of the following screening procedures may be recommended:

Breast Cancer: Women with Hereditary Breast and Ovarian Cancer syndrome are recommended to begin screening for breast cancer at a much younger age than the general population:

  • Breast awareness (familiarity with your breasts and prompt reporting of any changes to your doctor) starting at age 18
  • Clinical breast exam every 6-12 months starting at age 25
  • Mammogram and breast magnetic resonance imaging (MRI) annually starting at age 25 (or at the age chosen by your physician based on your family history)nci-vol-4361-300Mammography

Men with a BRCA1 or BRCA2 mutation may also benefit from breast cancer screening, and may wish to talk with their doctor about the optimal approach. National Comprehensive Cancer Network Guildlines for men who carry a BRCA1 or BRCA2 mutation include:

  • Breast self-exam training and education starting at age 35 y
  • Clinical breast exam,
  • Consider baseline mammogram at age 40 y; annual mammogram if gynecomastia or parenchymal/glandular breast density on baseline study. every 6-12 mo, starting at age 35 y
  • Consider prostate cancer screening starting at age 40 y

Signs and symptoms of breast cancer include the following:

  • A lump in the breast or armpit
  • Thickening or swelling of part of the breast
  • Irritation or dimpling of breast skin
  • Redness or flaky skin in the nipple area or the breast
  • Pulling in (retraction) of the nipple
  • Nipple discharge (other than breast milk)
  • A change in the size or the shape of the breast
  • Pain in any part of the breast

To learn more about mammography and breast MRI please listen to Kintalk's "Ask the Expert" Podcast titled, Comparing Mammography versus MRI for Individuals with a BRCA1 or BRCA2  gene mutation.

Kintalk PodcastComparing Mammography versus MRI for Individuals with a BRCA1 or BRCA2  gene mutation.


Ovarian Cancer: Because ovarian cancers begin deep in the pelvis, they often do not cause any symptoms until they are at an advanced stage. Ovarian cancer is difficult to detect through screening tests. In the general population, screening for ovarian cancer has not been shown to reduce the risk of death. However, because women with Hereditary Breast and Ovarian Cancer syndrome have an increased risk of developing ovarian cancer, some clinicians believe that screening is warranted in this population.

The NCCN has determined that screening may be considered at the clinician’s discretion. There are two types of screening tests that can be used for ovarian cancer and neither has been shown to be sufficiently sensitive or specific:

  • Transvaginal ultrasound: A transvaginal ultrasound is an imaging procedure during which a physician inserts a probe into the vagina to examine the reproductive organs and bladder.
  • CA-125: CA-125 is a protein produced by more than 90 percent of advanced epithelial ovarian cancer, which is the most common form of the disease. The serum CA-125 test is a blood test that looks for high levels of CA-125, considered a biomarker of ovarian cancer. The test is imperfect and is not considered a reliable method for detecting ovarian cancer.

For women who have not undergone preventive removal of the ovaries (discussed in the section on Preventive Surgery), these two screening tests may be used together, every six months, starting at age 30 or at an individualized age based on your family history.

Signs and symptoms of ovarian cancer may include:

  • Bloating
  • Pelvic or abdominal pain
  • Difficulty eating or feeling full quickly
  • Urinary symptoms (urgency or frequency)

Endometrialcancer screeningTransvaginal Ultrasound


Preventive Surgery

Surgeries that are performed to remove at-risk organs prior to the development of cancer are called risk-reducing (or prophylactic) surgeries. Some women opt to undergo risk-reducing surgery in order to prevent breast and/or ovarian cancer. Surgical options for preventing these cancers are:

  • Bilateral Mastectomy: Prophylactic surgical removal of both breasts reduces the risk of breast cancer by at least 90%.
  • Salpingo-Oophorectomy: An salpingo-oophorectomy is a surgical procedure to remove the ovaries and the fallopian tubes. When this procedure is performed before menopause, it reduces the risk of both ovarian cancer and breast cancer. Women may wish to consider this procedure between the ages of 35 and 40, or after childbearing has been completed.


Preventive Strategies


Preventive Medications: Drugs known as selective estrogen receptor modulators (SERMS) may be used to reduce the risk of breast cancer in women at high risk of the disease. These drugs include tamoxifen and raloxifene. Evidence regarding the effectiveness of these drugs in women with a BRCA1 or BRCA2 mutation is still somewhat limited.

Oral contraceptives (birth control pills) reduce the risk of ovarian cancer, but studies have produced conflicting results about their effect on breast cancer risk.

Lifestyle modifications: While diet and exercise are not a panacea, they do contribute to overall health. Several studies have indicated that a healthy diet and exercise may reduce the risk of developing cancer. Eating a diet rich in fruits, vegetables, and whole grains provides a number of health benefits, as does undergoing regular physical activity. 

1.  Nutrition Guidelines: American Cancer Society Guidelines on Diet and Physical Activity for Cancer Prevention

2. VideoEating for Life: Nutrition Strategies to optimize health after cancer treatment by Greta Macaire

3. Kintalk Podcast: "Nutrition for Cancer Prevention and Hereditary Cancer"



For patients of reproductive age, advise about options for preimplantation genetic diagnosis (PGD) assisted reproduction. Discussion should include known risks, limitations, and benefits of these technologies. To learn more about PGD please visit  American Pregnancy Association here: 

For BRCA2 carriers, risk of a rare (recessive) Fanconi anemia/brain tumor phenotype in offspring should be discussed if both partners carry a BRCA2 mutation including pre-implantation genetic diagnosis mutations.

1. Kintalk Podcasts: Reproductive technology for men and women with BRCA1 and BRCA2 genetic mutations



National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) Genetic/Familial High-Risk Assessment: Breast and Ovarian. Available at: