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Family History of Breast Cancer

There is no doubt that breast cancer can run in families. Just because one of your relatives had breast cancer does not mean you are absolutely fated to develop it. Your risk may be increased if your relative developed breast cancer at a young age or if the relative is very closely related, like a mother, sister or daughter.  Having a family history of early onset breast cancer in close relatives may be a reason to look into genetic testing.

Women who have a strong family history of breast cancer are encouraged to find a comprehensive breast center where experienced breast specialists can guide you about decisions regarding:

  • Genetic testing
  • High-risk evaluation and monitoring
  • Screening schedules including digital mammography and clinical breast exams
  • Double preventive (prophylactic) mastectomies with reconstructive breast surgery
  • Hormonal therapy medications designed to prevent the development of breast cancer

Managing your Breast Health Options

We offer a safe and supportive environment where you can ask questions and get the best answers for you. Every woman's decision about how to handle her risk of developing breast cancer is managed with sensitivity and an understanding about the complexity of these decisions.

Guidelines for Genetic Testing for Breast Cancer

About 10% of breast cancers are related to inheritance of damaged genes. BRCA1 and BRCA2 are the genes most frequently implicated, but there are many other genes, such as PALB2, ATM, and CHEK2, that need to be considered as well.  Genetic testing usually starts with a family member who has already developed a breast or ovarian cancer.  If this individual is positive for a mutation then all of the other family members can be tested for the same mutation to determine who is high risk and who is not.  If no one in the family is known to carry a mutation then the test is considered “non-informative.”  That means the test was unable to tell us which relatives in the family are high risk.  People who have inherited a damaged gene are at increased risk for breast and other cancers.  The risk may be as high as 80% depending on the specific gene and family history. Guidelines for determining whether an individual should get genetic testing or not are constantly evolving. General criteria include:

  • Someone in your family is known to carry a mutated gene
  • Ashkenazi Jewish ancestry
  • You were diagnosed with breast cancer before age 50
  • A man in your family has been diagnosed with breast cancer
  • You were diagnosed with ovarian cancer
  • There are multiple breast cancers on one side of your family
  • Cancer was diagnosed in both breasts

All women should undergo genetic counseling prior to testing. Decisions made from test results can be life altering, and there are also ramifications for other family members (siblings, children) since someone with a genetic mutation has about a 50% chance that her children also will test positive.

The test is a simple blood test that is covered by most insurance companies. On average, results take 14 days. If you have a family member who has tested positive, the lab can look specifically for that gene alteration. In these cases, results may take one week.

Guidelines for Breast Cancer Screening

Breast cancer screening guidelines for average risk women have become confusing. One organization recommends that women start getting mammograms every other year at age 50 and another recommends yearly mammograms between age 45 and 55 with every other year mammograms thereafter. One reason for these differences is disagreement as to whether annual mammography in younger women can reduce the risk of dying of breast cancer. At Johns Hopkins, we continue to recommend annual mammography beginning at age 40 for average risk women,

Many states have enacted legislation requiring breast imagers to notify women if their mammograms are classified as “dense”. A dense mammogram means that small cancers could be hidden in some parts of the breast that have a lot fibrous tissue and not much fat. More than half of the women who get mammograms will be told that they have “dense” breast tissue. The point of the notification is to make sure women know that mammograms are not 100% sensitive for picking up breast cancers. The newer mammogram, called 3-D breast tomosynthesis, is sufficiently sensitive in dense breast tissue.  Most women with dense breasts just need to make sure they are getting breast tomosynthesis instead of tradition digital mammography. Only 10% of women getting mammograms have extremely dense breast tissue, these women could discuss extra screening with ultrasound or MRI with their breast care providers. However, national practice guidelines do not currently recommend extra tests in these women.

Extra screening tests are recommended for women with higher than average risk for breast cancer. Current guidelines suggest that if you have more than a 20% risk of developing breast cancer during your lifetime you should consider adding screening breast MRI to your mammogram. Women who carry mutations in BRCA1, BRCA2, PALB2, or CHEK2 will meet this risk threshold. Other women with family history of breast cancer or a history of a breast biopsy showing high risk changes (such as atypical hyperplasia) may meet this criterion as well. You can calculate your breast cancer risk  online using the Gail model ( or the BCSC model ( Breast specialists in the Johns Hopkins Breast Center have access to additional resources for calculating your breast cancer risk. At Johns Hopkins enhanced surveillance for high risk women consists of a breast exam every 6 months alternating mammograms with MRI scans.

Breast cancer screening may start before age 40 in women with a family history of breast cancer. For women with no known gene mutation screening can begin five years before the earliest age at diagnosis in the family. For example, if your mother was diagnosed when she was 35, you should begin screening when you are 30. 

For women with BRCA1, BRCA2  mutation screening could start as early as age 25. There is some concern that the radiation exposure from mammograms performed before age 30 could increase breast cancer risk, especially in BRCA1 and BRCA2 mutation carriers. Screening early in life usually consists of breast exams and MRI scans (if indicated). 

Guidelines for Elective Surgical Options

Women with BRCA1 or BRCA2 mutations face a significant risk of breast and ovarian cancer. Prophylactic removal of the fallopian tubes and ovaries is recommended by about age 40.  Many women with BRCA1 or BRCA2 mutations will also elect to have their breasts removed. Nipple-sparing mastectomy is an effective option for these women. 

Making the decision to have an elective preventive double mastectomy and removal of the ovaries is personal and should be based on many life factors. You must balance where you are in your childbearing years, what your future choices may be, and whether you would prefer to follow a rigorous screening schedule instead of making such a life-altering choice.

Whatever your decision, we encourage you to make an informed choice. If you do elect to have a preventive double mastectomy, our breast specialists will guide you in the appropriate breast surgery reconstruction to help restore your body image after treatment.

If you are interested in discussing ovary removal surgery (oophorectomy), we will refer you to one of our gynecological oncologists.