Genetic Testing

Most cancers occur sporadically or “by chance,” however, a low percent of newly diagnosed breast cancers have a genetic or familial component. Determining whether a cancer is inherited genetically can be very helpful not only for the patient, but for the patient’s family as well. BRCA mutations can dramatically increase the risks of breast cancer, second primary breast cancer, and ovarian cancer, as well as other cancers.

Fortunately, we now have the technology to test patients with risk factors for breast cancer.

Features indicating risk for BRCA mutations include the following:

  • Early onset breast cancer (<50 years old at diagnosis)
  • A history of two primary breast cancers (either bilateral or ipsilateral)
  • A family history of early onset breast cancer
  • Male breast cancer
  • A personal or family history of ovarian cancer
  • Ashkenazi (Eastern European) Jewish heritage (1 in 40)
  • A previously identified BRCA1 or BRCA2 mutation in the family

 

One or more of the above risk factors allow further investigation into the benefits of genetic testing. Some fear the possiblility of knowing they carry a breast cancer gene mutation.

However, we have to remember that when it comes to breast cancer, nothing beats early diagnosis, and this can theoretically make a diagnosis before the cancer ever occurs.

We now have a variety of effective risk reduction options available to provide our patients who carry the BRCA1 or BRCA2 gene.

Risk reduction options include:

Increased surveillance:

  • Monthly self breast exams starting at age 18 and semi-annual clinical breast exams beginning at age 25.
  • Yearly mamography/MRI beginning between 25-35.
  • Annual or semi annual transvaginal ultrasound and testing for CA-125 to detect ovarian cancer beginning between the ages of 25-35.

Chemoprevention:

  • Drugs such as Tamoxifen greatly reduce the risk of breast cancer in high-risk women.
  • Oral contraceptives (birth control pills) have been associated with up to 50 to 60% reduction in the risk of ovarian cancer in women with BRCA mutations.

Prophylactic surgery:

  • Preventative mastectomy reduces the risk of breast cancer by at least 90% in women with BRCA mutations.
  • Preventive removal of the ovaries reduces the risk of ovarian cancer by 96%, as well as breast cancer by at least 50% (if done prior to menopause), in women with BRCA mutations.


Myriad Genetics BRCA1 and BRCA2 testing is available onsite

We also offer Agendia Mammaprint

Common Questions and Concerns…

 

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