Understanding the Results

When your results arrive, they may be positive or negative for a gene alteration, or they may be uncertain. If your test is positive, it means that you have an alteration of a gene, and therefore, you have a higher risk of developing cancer, the specific risk is dependent on which gene has an alteration.

If your test is negative, it means an alteration wasn’t found in your DNA. While this is good news, it doesn’t completely eliminate your chance of developing breast or ovarian cancer. You will likely remain at some increaed risk for cancer, the specific risk will depend on your family history of cancer.  Your cancer risk will be explained to you at the time your receive your genetic test result.

If your result comes back as uncertain, it means that you do, in fact, have an alteration of a gene—but it is an alteration that may or may not increase cancer risk.

What If Your Result Is Positive?

First of all, don’t panic. A positive result is in no way a guarantee that you’ll develop breast or ovarian cancer. You don’t need to rush into any decisions or treatments, and you should take your time to discuss your options with your doctor, talk to your family and gather all of the information you feel you need to make an informed plan of action.

If it is determined that you have a genetically increased risk for breast or ovarian cancer, your physician will discuss and work with you to develop a personalized strategy to monitor your breast health. Screening and preventative measures may include:

Increased Surveillance

  • Monthly breast self exams (beginning at age 18)
  •  Annual or semi-annual clinical breast exams (beginning at age 25-30)
  • Yearly MRI (beginning at ages 25-30)
  • Yearly mammography/MRI (beginning at age 30)
  • Annual or semi-annual transvaginal ultrasound and testing for CA-125 to screen for ovarian cancer (beginning at age 30)


  • Drugs such as Tamoxifen have been shown to reduce the risk of breast cancer in high-risk populations
  • Oral contraceptives may reduce the risk of ovarian cancer in women with BRCA1 or BRCA2 mutations 


  • Preventive mastectomy significantly reduces the risk of breast cancer in women with BRCA1or BRCA2 mutations
  • Preventive removal of the ovaries significantly reduces the risk of ovarian cancer, and also breast cancer, in women with BRCA1or BRCA2 mutations

For more information or to schedule an appointment please contact us at:

Hereditary Risk Assessment Program
Middlesex Hospital Comprehensive Cancer Center
540 Saybrook Road, Suite 280
Middletown, CT 06457

Phone: 860-358-2092
Fax:  860-358-2074

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