The Breast Cancer Reconstruction Blog: BRCA Testing: What it ...

By: Brandy Korman

If you have a family history of breast cancer, chances are that you have been BRCA tested or are considering it.

BRCA is an acronym for BReast CAncer. Carrying the BRCA 1 or BRCA 2 gene mutation can ultimately help determine a woman?s lifetime risk of developing breast or ovarian cancer. The likelihood that a breast and or ovarian cancer is associated with a BRCA 1 or 2 gene mutation is highest in families with a history of multiple cases of breast cancer.

Being a carrier of BRCA 1 or 2 however does not always mean that a woman will develop cancer, although research has shown that chances are five times higher in women who do carry the mutation. According to estimates of lifetime risk, about 12 percent of women (120 out of 1000) in the general population will develop breast cancer during their lives compared to about 60 percent of women who have inherited a BRCA 1 or 2 mutation.

BRCA testing is performed by blood tests which look for changes in DNA, as well as changes in proteins produced by these genes. Positive results generally indicate that a person has inherited a known harmful mutation and therefore has an increased risk of developing an associated cancer.

If you have received a positive BRCA test, you may be looking into options to help prevent cancer. Surveillance is extremely important even if you have not received a positive test result. Staying on top of mammograms and self-screening is crucial.

Some women may opt for prophylactic surgery which involves removing any at-risk tissue in order to reduce the chance of developing cancer. The option for immediate breast reconstruction has made prophylactic mastectomy a more desirable choice for some women.

Another option may be chemoprevention which essentially involves taking medication to reduce the risk of developing cancer. For example, the drug Tamoxifen has been shown in clinical trials to reduce the risk of developing breast cancer by about 50 percent in women who are at increased risk of developing cancer.

If you have tested positive for BRCA, or are interested in receiving more information on genetic testing, please visit www.cancer.gov. Learn more about reconstruction after prophylactic breast surgery here.

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Thank you Brandy for this excellent article. Some great info here.

I'd like to add a couple of points...

BRCA gene mutations are associated with other forms of cancer too, not just breast and ovarian. Affected women can also have an increased risk of developing melanoma as well as cervical, uterine, pancreatic, gallbladder, stomach, and colon cancer (depending on the type of mutation).

BRCA gene mutations can also affect men and increase the risk of breast cancer, pancreatic cancer, testicular cancer, and prostate cancer. When it comes to testing other family members, I strongly recommend the men/boys are BRCA tested too.

I hope this info helps.

Dr C

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