Genetic Risk

Patients with a strong family history are certainly at risk for carrying a genetic mutation that significantly increases one's risk of developing breast cancer. Genetic testing positive for a mutation equates to an elevated risk of the future development of breast cancer (among other cancers). On the other hand, if this same person had negative genetic testing they would still be at risk but perhaps not quite as high. Having a strong family history of breast cancer even when genetic testing is negative is still considered significant and is extremely important for patients to recognize.

Grandmother with adult daughter and grandchild

How is risk assessed?

There are many ways to assess one’s risk of developing breast cancer, all of which begin with a thorough history and physical examination. A ‘high risk’ consultation at Comprehensive Breast Care begins with this initial assessment that also includes the use of specific risk calculations using a number of different risk models. Many risk models can be used to determine the lifetime risk of developing breast cancer as well as one’s risk of carrying certain genes that predispose the development of breast and other cancers.

Genetic Testing

Approximately 10% of all breast cancers, are related to a gene mutation.  The BRCA gene mutations (BRCA 1 and BRCA 2) are the two most are familiar with due in part to the attention brought by Angelina Jolie who had a prophylactic (preventative) mastectomy because she was found to have a gene mutation.

What are risk factors to carrying a gene mutation?

  • early age of breast cancer
  • multiple affected family members
  • ‘related’ cancers in the family (ovarian, prostate, melenoma, colon)
  • patients with  multiple primary breast cancers
  • men with breast cancer
  • “triple negative” breast cancers

Genetic Pic

Risk

Women who carry a genetic mutation have as high as an 80% chance of developing breast cancer in her lifetime and a 40% chance of developing ovarian cancer.  Thus, there are options to discuss as to how best to deal with the associated risk.  These options include:

  • close surveillence
  • chemoprevention
  • surgery

Drs Brown and Gold participated in a landmark study that challenges historic guidelines used to determine insurance coverage for genetic testing.  Additional research is needed to quantify the impact on clinical outcomes when all patients with a personal history of breast cancer are eligible to undergo genetic testing (ie, elimination of additional guidelines), including multigene panel testing; however, our results suggest that approximately 45% of patients with breast cancer with clinically actionable germ line variants are being missed when testing is restricted to patients meeting current NCCN guidelines and when testing strategies are limited to panels containing only BRCA1/2 or to less comprehensive panels. We propose that testing criteria be expanded to include all patients with breast cancer.

Counseling

Having the proper counseling is paramount to making the informed decision to have testing.  Comprehensive Breast Care works very closely with genetic counselors to help guide patients who test positivie for a mutation.

American College of Surgeons Commission on Cancer

“…cancer risk assessment, genetic counseling, and genetic testing services must be provided to patients by a qualified genetic professional either on site or by referral.”

NCCN Guidelines 2019

The number of genetic mutations know today warrant increasing a patients access to testing.