Genetic Testing

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Many people decide to learn whether or not they have an abnormal gene that is linked to higher breast cancer risk. Three of the most well-known abnormal genes are BRCA1, BRCA2, and PALB2. Women who inherit a mutation, or abnormal change, in any of these genes — from their mothers or their fathers — have a much higher-than-average risk of developing breast cancer and ovarian cancer. Men with these mutations have an increased risk of breast cancer, especially if the BRCA2 gene is affected, and possibly of prostate cancer. Many inherited cases of breast cancer have been associated with these two genes.

The function of the BRCA and PALB2 genes is to keep breast cells growing normally and prevent any cancer cell growth. But when these genes contain the mutations that are passed from generation to generation, they do not function normally and breast cancer risk increases. Abnormal BRCA1, BRCA2, and PALB2 genes may account for up to 10% of all breast cancers, or 1 out of every 10 cases.

Remember that most people who develop breast cancer have no family history of the disease. However, when a strong family history of breast and/or ovarian cancer is present, there may be reason to believe that a person has inherited an abnormal gene linked to higher breast cancer. Some people choose to undergo genetic testing to find out. A genetic test involves giving a blood sample that can be analyzed to pick up any abnormalities in these genes.

In this section, you can read more about the following topics related to genetic testing:

If you want to learn more about family-related risk and genetics, you can visit the Lower Your Risk section of this site.

Researchers have discovered, and are continuing to discover, other abnormal genes that are less common than BRCA1, BRCA2, and PALB2 but also can raise breast cancer risk. Testing for these abnormalities is not done routinely, but it may be considered on the basis of your family history and personal situation. You can work with your doctor to decide whether testing for gene abnormalities besides BRCA1, BRCA2, and PALB2 is warranted.

To connect with others who have tested positive for a BRCA1 or BRCA2 gene abnormality, visit the Discussion Board forum BRCA1 or BRCA2 Positive.

The medical experts for Genetic Testing are:

  • Rachael Brandt, M.S., C.G.C., genetic counselor, Main Line Health Cancer Center, Philadelphia, PA
  • Generosa Grana, M.D., F.A.C.P., breast cancer genetics specialist, Cooper Hospital/University Medical Center, Camden, NJ
  • Marisa C. Weiss, M.D., breast radiation oncologist, Lankenau Hospital, Thomas Jefferson University Health System, Philadelphia, PA

These experts are members of the Professional Advisory Board, which includes more than 60 medical experts in breast cancer-related fields.

Expert Quote

"Simply having a proven gene abnormality does not necessarily mean that a woman will develop breast cancer, or that her cancer will be any worse than cancer that does not stem from an inherited genetic flaw."

-- Marisa Weiss, M.D., president and founder,

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