Diagnosing Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Breast and Ovarian Cancer syndrome dramatically increases the risk for cancer in a person’s lifetime. The genetic condition can have a significant impact on individuals and families—resulting in early onset cancer, multiple cancers in an individual, and many generations of a family affected by cancer. As such, it is important to diagnose and manage Hereditary Breast and Ovarian Cancer syndrome in order to prevent cancer or detect it early when it is most treatable.

The Importance of Diagnosing Hereditary Breast and Ovarian Cancer SyndromeAsian Family

Hereditary Breast and Ovarian Cancer syndrome has a variety of implications for individuals and families. Individuals who have hereditary breast and ovarian cancer syndrome have a much higher risk of developing breast, ovarian, and other cancers than the general population. Furthermore, individuals with Hereditary Breast and Ovarian Cancer syndrome who already have cancer have a higher risk of developing new cancers in the future. What’s more—because Hereditary Breast and Ovarian Cancer syndrome syndrome is an inherited condition, it can affect other family members. A diagnosis of Hereditary Breast and Ovarian Cancer syndrome can shine the light on potentially increased risk throughout a family. This includes males in the family as well as females. One myth is that this syndrome only affects women but in reality men with Hereditary Breast and Ovarian Cancer syndrome have an increased lifetime risk for cancers too. Additionally, both men and women can pass this condition on to their children at the same rate. This cancer syndrome does NOT skip generations.

Signs of Hereditary Breast and Ovarian Cancer Syndrome

There are some personal and family characteristics that are common in hereditary breast and ovarian cancer syndrome:

  • Breast cancer diagnosed at or under age 45
  • Ovarian cancer
  • Breast and ovarian cancer in the same woman
  • Bilateral breast cancer at any age
  • Ashkenazi Jewish heritage
  • Male breast cancer
  • A known BRCA1 or BRCA2 mutation in a family member
  • Breast cancer at any age with 2 close blood relatives with pancreatic cancer or aggressive prostate cancer (Gleason score 7) at any age
  • Personal history of pancreatic cancer or aggressive prostate cancer (Gleason score 7) at any age with 2 close blood relatives with breast and/or ovarian and/or pancreatic or aggressive prostate cancer (Gleason score 7) at any age[1]

These are simply a starting point for developing suspicion of hereditary breast and ovarian cancer syndrome. Some families have one or more of these characteristics but do not have hereditary breast and ovarian cancer syndrome; other families do not have these characteristics, but do have hereditary breast and ovarian cancer syndrome.

Diagnosing Hereditary Breast and Ovarian Cancer Syndrome

There is a process to diagnosing hereditary breast and ovarian cancer syndrome, and it typically begins with a comprehensive review of the family medical history, which is sometimes followed by genetic testing.

Family History: A clinician, such as a genetic counselor or a doctor, will construct a multi-generational family tree and perform a comprehensive review of a family medical history in order to assess a family’s risk of hereditary breast and ovarian cancer syndrome. If the family history indicates the possibility of Hereditary Breast and Ovarian Cancer Syndrome, the clinician might suggest further tests. Families who have very few members or have a predominance of men may not raise concern but should still be taken into consideration when there is a cancer suggestive of Hereditary Breast and Ovarian Cancer Syndrome in the family. To find a genetic counselor in your area refer to our How to Find a Genetic Counselor page.

shutterstock_112249832Genetic Testing: Genetic tests are tests that look for changes in your genes that indicate that you have hereditary breastand ovarian cancer syndrome. In order to undergo genetic testing, you will need to provide a blood or saliva sample. Genetic professionals will then perform a special laboratory analysis on your blood to look at specific gene mutations that cause hereditary breast and ovarian cancer syndrome.

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