BRCA 1 & 2 Gene Testing: What Does A Positive Test Mean And Should You Get Tested?

The BRCA 1 and 2 gene mutations, and a handful of other (rarer) gene mutations, account for about 10% of all breast cancer cases. The abnormal genes affect about 1 in 400 people and can be inherited from either or both parents.

BRCA gene mutations increase the lifetime risk of breast cancer in women to between 50 and 87% (depending on the study). The lifetime risk of breast cancer in the general population is about 12%.

Due to the publicity BRCA has received in the media lately, most people think it only affects women. That's not true. Men can be affected too. Men carrying an abnormal BRCA gene have a 5-10% risk of getting breast cancer at some point in their lives. Unaffected men only have a 0.1% lifetime risk.

Families carrying the abnormal genes also have more than breast cancer to worry about. BRCA mutations significantly increase the risk of several other types of cancer in the family including ovarian, fallopian tube, peritoneal, pancreatic, colon, prostate and melanoma.

Anyone who has a strong family history of breast cancer should consider having a BRCA test. Those who are also of Ashkenazi Jewish descent are at particularly high risk of being affected; Ashkenazi Jews have a much higher prevalence of the BRCA1 and 2 mutations than the general population (1 in 40).

It's also important to consider the implications of a positive test before actually having it. What would you do if you found out you're affected? How would it affect your kids? The rest of your family? Would you consider having prophylactic (preventive) mastectomy?

I strongly recommend genetic counseling before having any genetic test. Only then can you truly understand the implications of the test and what a positive result could mean for you and your family.

I hope this info helps.

Dr C

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Dr C is a board certified plastic surgeon and microsurgeon specializing in state-of-the-art breast reconstruction. He and his partners at PRMA are In-Network for most US insurance plans. Patients are welcomed from across and outside the US. Please call (800) 692-5565 or email patientadvocate@PRMAplasticsurgery.com to learn more about your breast reconstruction options. Connect with others touched by breast cancer in our Facebook community.

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BRCA Testing: What it means for you

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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PRMA Plastic Surgery specializes in advanced breast reconstruction including DIEP flap, SIEA flap, GAP flap, TUG flap, Alloderm One-Step and fat grafting. In-Network for most US insurance plans. Patients routinely welcomed from across the USA. Please call (800) 692-5565 or email patientadvocate@PRMAplasticsurgery.com to learn more about your breast reconstruction options. Connect with other breast cancer reconstruction patients at facebook.com/PRMAplasticsurgery.

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