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. If genetic testing is performed, and, is positive for a mutation, this would equate to an elevated genetic risk. On the other hand, if this same person, had negative genetic testing, they would still be at risk. Having a strong family history of breast cancer, even when genetic testing is negative, is still considered risk, 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 risk models. There are many risk models that can be used to determine one’s 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, when she 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

Counseling

Having the proper counseling is paramount to making the informed decision to have testing.  Comprehensive Breast Care works very closely with the Genetic Counseling Program at Beaumont Health, in confirming the proper counseling is made available.

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 2014

Because of the complexity and limited data regarding their clinical utility, hereditary multigene cancer panels should only be ordered in consultation with a cancer genetics professional.