Ever since Angelina Jolie announced that she had tested positive for a BRCA mutation, indicating a genetic predisposition for breast cancer, there has been increased public awareness of the role that genetic mutations play in assessing and managing the risk of breast cancer.

One of the most common questions my patients ask me is, “Do I need genetic testing?”

Most patients tend to overestimate the genetic risk associated with their family history.  I can often reassure them that although they do have a family history for breast cancer, it is not associated with risks for an inherited mutation.  Indeed, only 5-10 percent of all breast cancer diagnoses are associated with genetic mutations.  Most women who are diagnosed with breast cancer do not have a genetic predisposition.  I also remind my patients that breast cancer is mostly a disease of aging. The majority of women diagnosed with breast cancer in the US are older than 55.

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My role as a breast surgeon is to identify high-risk individuals, encourage and provide access for hereditary cancer genetic testing, and propose individualized management strategies for patients who test positive.

There have been tremendous advances in identifying breast cancer gene mutations, which has also coincided with increased access for patients. Identifying patients who are mutation carriers may reduce the risk of future cancer and may prevent death from cancer through risk-reducing interventions.

Who should get genetic testing?

There are certain red flags in a person’s family history that identify a high-risk individual who would be a candidate for genetic testing. These are the current criteria we use to refer patients for genetic counseling and risk assessment. This applies to individuals who ultimately have a diagnosis of breast cancer as well as unaffected individuals. These criteria include:

  • A diagnosis of breast cancer at age 50 or younger
  • Any woman age 60 or younger who has been diagnosed with a “triple negative breast cancer”
  • Individuals of Ashkenazi Jewish heritage with a personal or family history of breast or ovarian cancer at any age
  • A personal or family history of being diagnosed with two different breast cancers at the same time
  • Having a direct blood relative with breast cancer diagnosed at age 50 or younger
  • Having two relatives on the same side of the family with breast cancer and/or pancreatic cancer
  • Having a family or personal history of ovarian cancer at any age
  • Male breast cancer at any age
  • If there is a known mutation carrier in the family

What does genetic testing involve?

We are fortunate to have certified genetics counselors on staff at the Carol G. Simon Cancer Center, who meet with any patient referred for genetic testing. This visit involves more than simply getting your blood drawn in the lab. This is a comprehensive evaluation. The genetics counselor will obtain a complete medical history, create a detailed 3-4 generation family history pedigree, perform a risk assessment, provide education on the field of genetics and the hereditary genes of interest based on the results of the family history and then order the appropriate genetic testing panel. They will counsel the patient in advance regarding the possible test results and their interpretations. The actual test involves a routine blood draw that is sent to one of several specialty labs.

The results take 2-3 weeks to be reported. The genetics counselor will then contact the patient with the test results. Based on the findings, they will make appropriate medical management recommendations, review the implications for relatives, make appropriate referrals, and provide ongoing support with continued management and updates if there are changes in the recommendations for individuals that have genetic predispositions.

Rebecca Yang, MD, Medical Director, Breast Surgery, Overlook Medical Center, Summit and Union, NJ