Dear Dr. Pat,

My mother had breast cancer at 45 and my sister was just diagnosed with ovarian cancer. There are no other cancers in our family but I have a very small family. I live in another country where there is no sophisticated genetic counseling and access to testing is almost impossible. I visit friends in the United States once a year.  It is possible for me to get genetic testing if this is necessary. I am now 48, have regular menstrual periods and no menopausal symptoms. I would prefer not to have a surgical menopause. I know that you can not give me personal advice, but what can you tell me about how genetic testing might change the way I approach this difficult problem?


Dear Sarah,

This disturbing family history that you describe is not all that uncommon.  Many women have a family history filled with breast, colon, ovarian and other cancers.  Everyone wants to know if she is at an increased risk due to an inherited genetic problem and if there is any testing that will change the way she chooses to diminish her personal risk.

I have asked Dr. Elizabeth Poynor, our new Board Member to discuss this important question. Dr.Poynor is a specialist in gynocologic cancer surgery who practices in New York City.

Dr. Pat

Hello Sarah

I am pleased to have this opportunity to discuss a question that I address with my patients all the time.  Your family history may indicate a genetic predisposition to breast and ovarian cancer and you are wise to recognize this. Your personal family history of cancer should be reviewed with a physician or health care provider who is aware of the importance of cancer genetics.

All cancers arise from a combination of genes which we inherent from our parents, and environmental influences. There are genes, called cancer predisposition genes, that can undergo mutation, which can then significantly increase an individual's risk for cancer. These genes normally code for factors in a cell that tell the cell to stop dividing. When these genes undergo mutation, cells may continue to grow out of control and a cancer can result. Not everyone however, who has a mutation in a cancer predisposition gene, will go on to develop a malignancy.  Other genetic and environmental influences play a role in the development of cancer.It is very important that a woman pay attention to her family history of breast and ovarian cancer.

Click through to next page as Dr. Poynor explains when genetic testing is helpful…and when it is not.

There are families in which breast cancer occurs in each generation, these are considered hereditary breast cancer families. Women who are members of these families may have up to an 80-90% chance of developing breast cancer. In some families, breast cancer can occur along with ovarian cancer; these are called hereditary breast and ovarian cancer families. Mutations in two cancer predisposition genes, BRCA1 and BRCA2, may occur in 50% of hereditary breast cancer families and 85 % of hereditary breast and ovarian cancer families. Fortunately, genetic testing can now be performed for these two genes.

Genetic testing for a BRCA1 and BRACA2 mutation is being increasingly used to determine a woman's risk for breast or ovarian cancer. It is important that this testing be conducted with a professional who can not only help each woman interpret the results in an appropriate fashion but also thoroughly review the risks and benefits to genetic testing. This is called genetic counseling. It is important to understand that a family member affected with a breast or ovarian cancer should be offered genetic counseling and testing. This helps to determine if a mutation in BRCA1 or 2 is responsible for the cancers in your family.

There are limitations to genetic testing.  A negative test does not mean that a woman has no elevation in her personal risk for developing breast or ovarian cancer. Some women, who test negative for BRCA1 and 2 mutations, may still be at an elevated risk for breast or ovarian cancer.  It just means that the cause of the cancer in this family is probably not a mutation in these two genes.

The major reason to have genetic testing is to give the person being tested information that would cause them to change their preventive care strategies and to provide information to children and other close relatives about the family's genetic risk for cancer.

Women who are at elevated risk for developing breast cancer and have had positive genetic testing have many options for managing their risk depending on their age and life stage, along with personal  and financial choices.  These options range from the simple to the complex and expensive.  Breast self exams are certainly important, as are annual mammograms, breast sonograms twice a year and an annual breast MRI. These women can consider becoming part of a high risk breast cancer screening group with clinical breast exams and review of radiologic tests by breast cancer specialists on a regular basis. Women may consider treatment with certain drugs that have been shown to decrease the risk of breast cancer development in some women. Other women may even consider prophylactic bilateral mastectomies with breast reconstruction.

We have developed excellent screening techniques for breast cancer; unfortunately this is not the same for ovarian cancer. Screening for ovarian cancer is not reliable in spite of close attention to symptoms which is why this cancer is often far advanced when it is diagnosed. Typically ovarian cancer screening consists of a blood test, CA125, and a transvaginal ultrasound with attention to blood flow in and around the ovaries. However, we have never been able to demonstrate that ovarian cancer can be picked up in a reliable fashion with these techniques. A new test, Ovasure, is now on the market. The appropriate use of this test and the reliability of it have not been widely demonstrated and additional studies are required to determine if and when this test should be used in ovarian cancer screening.  Women who have this family history should certainly be aware that the use of the birth control pill has been shown to decrease the risk of ovarian cancer significantly in some groups of women.

Since we do not have reliable screening tests for ovarian cancer,and we know from experience that ovarian cancer is often diagnosed in a far advanced state, many women who have an elevated risk of developing ovarian cancer, either through genetic testing or family history, choose to have surgical removal of their ovaries and fallopian tubes. This can be done through the laparoscope, "belly button" or "band aid" surgery. The surgery is usually the easy part; the more difficult part for some women who are pre-menopausal are the often difficult symptoms of this "surgical menopause". 

Removal of the ovaries earlier in life is associated with bone loss, increased risk for cardiovascular disease, menopausal syndrome and often a real impact on the woman's quality of life. However, there are many healthy choices that a woman can make to diminish this negative impact on bone health, cardiac risk and menopausal symptoms.  It is ideal for the team who cares for women with BRACA mutations to include not only the surgical and medical cancer team, but also a doctor who understands the treatment of issues that arise with a surgical menopause.

Finally, women need to understand that there are limitations to prophylactic removal of the ovaries and fallopian tubes, as this does not prevent a cancer that looks like ovarian cancer, acts like ovarian cancer and is treated like ovarian cancer. Fortunately,this is a rare malignancy called primary peritoneal cancer, which arises from the lining of the abdomen.
All women should review 3 generations of their family history with their doctors and ask for guidance to determine their risk for ovarian and breast cancer. Then each woman can formulate a plan with her doctors for surveillance, prevention or early detection based on the information that is available to her.  So, do that genealogy research, not to find out where your relatives came from, but what they brought with them genetically!

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  • Joanne August 27, 2008 at 7:18 am

    Thank goodness we are finally beginning to get good advice and information about the ‘silent killer’ of ovarian cancer. Dr. Poyner is the reason I am alive today. Ladies… don’t listen to physicians who minimize your vague symptoms and chalk it up to ‘stress’. Demand to know: Could it be ovarian cancer? Backaches, fatigue, something just doesn’t feel right in my abdomen – all should be meticulously pursued! And yes, as painful as the genetic discussion might be, make an informed decision about it and don’t wait! Thank you Dr. Poyner!