Hot Topics

Genetic testing and breast cancer: Consider the implications

Genetic testing and breast cancer: Consider the implications

By Lisa M. Mayers

October is Breast Cancer Awareness Month and Healthy Life talked to area Health Professionals about some of the latest developments in the ongoing mission to help women understand and cope with the disease.

As genetic research progresses, more is becoming understood about the causes and contributing factors that lead to diseases like breast cancer. While it is currently estimated that only 5-10% of all breast cancers can be linked to inherited genetic mutations, such as BRCA1 and BRCA2, knowing your family health history has never been more important.

'Like' Healthy Life Magazine on Facebook

"Knowledge translates to vigilance," says Dr. Camelia Lawrence, MD a Board Certified, Fellowship Trained Breast Surgeon at the United Health Services Breast Center in Vestal. "A family history can tell us a lot about the big picture and lead us to the proper testing and surveillance of patients."

While genetic mutations are relatively rare in the general population, women who have a strong family history of any type of cancer - not just breast cancer - should consider genetic counseling. The counselors are trained to look for patterns that signal the need for genetic testing and to go one important step further by recommending which specific test(s) are indicated. Once you've been tested, their expertise is also very valuable in accurately interpreting the results. Just because you have tested negative for one gene mutation does not mean you don't have another.

An under-utilized community resource, genetic counselors can also assist you in understanding the implications a positive result can have on your ability to obtain life insurance or disability insurance in the future. There are laws in place to protect your privacy with regard to health insurance and employment discrimination, but no such laws exist for life insurance and disability.

The testing itself is fairly simple - a blood test, or buccal mouthwash that is sent to a specialized lab for analysis. When test results come back, genetic counselors and physicians assist you in interpreting the results - which can be positive, negative, or ambiguous. They can also guide you in making decisions about whether or not to include family members in the counseling and who to include.
"Many people don't realize that inherited gene mutations such as BRCA1 and BRCA2 can be carried and passed down by both the male and female members of a family," explains Dr. Lawrence.

For some women though, genetic testing is not just about assessing future risk. If you've already been diagnosed with breast cancer, and fit the criteria for testing, the process takes on a different tone - and speed can be of the essence.
"If a woman diagnosed with breast cancer tests positive for BRCA1 or BRCA2 her treatment protocol can shift, so it becomes important to have those results before deciding on a surgical plan," says Dr. Lawrence.

The treatment for BRCA1/BRCA2 gene-positive breast cancer is risk reducing bilateral mastectomy. If the woman is over 40 or at the end of her childbearing years, risk reducing oophorectomy (surgical removal of the ovaries) is also performed. The recommendations also apply to women who test positive, but have not been diagnosed with cancer.

The knowledge gained through genetic testing benefits family members as well.
"Genetic testing can be a powerful tool of protection, particularly for a person's sons and daughters," says Dr. Lawrence.

Counselors encourage patients to include family members in the process and to share their test results. The final decision however, will always rest with you, and it is not always an easy or straightforward one to make. At what age for instance, should a daughter be made aware of her risk? At what age should she be tested?

"If a woman's mother is gene positive, I would recommend that the daughter receive genetic counseling and be tested. If the daughter is positive, most clinicians recommend high risk surveillance from age 25 - clinical breast exams twice per year, annual mammography and MRI imaging. Once she is 40 or past her child bearing years, risk reducing mastectomy and oophorectomy is recommended," says Dr. Lawrence.

"If she tests negative, the protocol would include annual mammography and clinical breast exams beginning ten years earlier that the age her mother was diagnosed."

While our knowledge of genetics is evolving at an ever-increasing pace, the potential implications of genetic testing require careful thought. No matter your age, whether you have a cancer diagnosis or if testing was recommended due to high risk, and regardless of whether or not you choose to include your family, genetic counseling before and after testing is an important part of a complex process that must not be overlooked.

Camelia Lawrence, MD
Board Certified, Fellowship Trained Breast Surgeon
UHS Breast Center
Vestal, NY