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New Study Supports Effectiveness of Genetic Testing in Predicting Breast Cancer Risk

By Janet Maurice on 8/13/2014

A recent study published in the New England Journal of medicine offers good news for women looking for answers about their breast cancer risk.

Women who have mutations in a gene called PALB2 have an increased risk of developing breast cancer, according to the study. Although the study was small, Dr. Denise Barajas, Medical Director of The Hewitt Breast Center for Wellness at Griffin Hospital, believes the results will lead to larger studies to see how these mutations affect breast cancer risk.

"This is an exciting discovery in the field of breast cancer genetics," Dr. Barajas said. "Continued advances in genetics will help doctors individualize breast cancer prevention, screening, and treatments." 

Mutations in BRCA1 and BRCA2  genes have been widely studied, resulting in established guidelines for testing and recommendations for breast cancer screening for patients. The mutations in PALB2, which acts like a "partner" with BRCA2, have been associated with an unknown risk of breast cancer, so further study of the mutations in the PALB2 gene can help refine genetic testing and open new doors in determining breast cancer risk.

What Are My Chances of Getting Breast Cancer? 

Women who inherit a harmful mutation in BRCA1 or BRCA2 genes have a significant risk of developing breast and/or ovarian cancer. Recent estimates state that 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70. For ovarian cancer, 39 percent of women who inherit a harmful BRCA1 mutation and 11 to 17 percent of women who inherit a harmful BRCA2 mutation will likely develop the the cancer by age 70. 

What is Genetic Counseling? 

Genetic counseling is a process that includes collecting a detailed personal and family history, a risk assessment, and a discussion of genetic testing options. At the Hewitt Center for Breast Wellness, professional genetic counselors discuss the risks, benefits, and limitations of the available testing options. Personalized cancer screening and risk reduction recommendations are also made during the counseling sessions. A typical genetic counseling program consists of 2-3 genetic counseling appointments, lasting an hour each, that go along with the option of testing. In some cases, the content of the first two visits may be combined (this is usually done when the mutation in the family is known, or when testing is needed for an urgent medical issue, such as breast cancer surgery).

Why is Genetic Counseling Important?

Genetic counseling is an integral part of the breast cancer testing process.It is essential to ensure that the correct test is ordered and necessary for accurate interpretation of test results and ongoing medical management.  

Studies have shown a high rate of genetic test result misinterpretation among providers who do not specialize in this area. Due to the complexities of the cancer genetic counseling and testing process (including which test to order and interpreting the results correctly), programs such as the Hewitt Center for Breast Wellness are structured around cancer genetics specialists who are experts in their field. 

Genetic counseling is critical in helping breast wellness specialists estimate a person's true risks of developing cancer and develop a personalized plan for surveillance and management based upon those risks. It can also be very useful to the entire family, helping family members determine the need for their own genetic counseling and testing. 

Am I a Candidate For Breast Cancer Genetic Testing?

Individuals who have a personal and/or family history that includes risk factors for hereditary cancers may benefit from genetic testing. These risk factors include multiple relatives on the same side of the family with the same cancer or related cancers, cancer at unusually early ages, more than one diagnosis of cancer in the same individual, rare cancers, or a family history of a known altered cancer-predisposing gene (such as BRCA1 or BRCA2).

Can I Still Be Tested If Breast Cancer Doesn't Run In The Family? 

The Hewitt Center for Breast Wellness has launched a high-risk breast cancer program that includes the state-of-the-art BREVAGen™ predictive risk test. BREVAGen™ assesses a woman's unique risk of developing non-familial or sporadic breast cancer with a simple, in-office oral swab test.

   BREVAGen predictive risk testBREVAGen™ uses Clinical Risk and Genetic Markers to assess individual risk of developing sporadic breast cancer. Once the risk level is known, the doctor will help develop a plan for monitoring the patient's breast health and recommend life changes that may minimize the chances of developing breast cancer.

Do  you have concerns about your breast wellness and breast cancer risk? Please call us to schedule an appointment. We can help. Learn more at www.griffinhealth.org/cbw 

Call: 201-732-1300

breast cancer testing
Dr. Denise Barajas
genetic counseling
genetic testing
PALB2 gene
The Hewitt Center for Breast Wellness