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.

--

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

*****

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.

*****

Breast Cancer Gene Testing Less Likely Among Blacks

NEW YORK (Reuters Health) - African American women are generally less likely than white women to pursue genetic testing for BRCA1 or BRCA2, the gene mutations associated with an increased risk of break cancer, researchers report. However, African American women with a recent diagnosis of breast cancer are much more likely to do so, according to the article in the Journal of Clinical Oncology.

"Everybody deserves consideration for testing if their clinical and family history situation warrant it," Dr. James P. Evans, from the University of North Carolina at Chapel Hill, told Reuters Health. "Regardless of race, one has to approach genetic testing as an important option and explain the pros and cons to the patient."

Evans and associates examined race and the timing of breast cancer diagnosis and the frequency of BRCA1/2 genetic testing among women attending the UNC Cancer Genetics Service.

Among 768 women diagnosed with breast cancer who were offered BRCA1/2 testing, the rates of testing among African American and white patients did not differ, authors report.

Overall, African American women were 46 percent less likely than white women to undergo BRCA1/2 genetic testing, the author report.

Women who were diagnosed recently had a higher odds of pursuing testing than did women diagnosed more than 1 year before genetic evaluation, the investigators say, but this difference was statistically significant only for African American women, who were almost three-times as likely to undergo genetic testing.

Why a recent breast cancer diagnosis increases the use of BRCA1/2 genetic testing so "dramatically" among African American "could contribute to a better understanding of racial disparities in genetic testing and medicine," the authors conclude.
"We continue to aggressively try to find avenues for women who need testing but can't afford it, Evans said."One of the most interesting (and distressing) features of our study in my mind is that almost half of the patients who could benefit from testing can't get it...either because they had no insurance or their insurance was inadequate. Only through our special program were we able to provide it for all those patients."

Maximizing the use of BRCA1/2 testing requires "good genetic counseling and a personalized attentive approach on the side of the medical team," Evans advised. "We try to take a lot of time to explain the nuances to women and why testing can be of help to them and their families. I think this is especially important with African American patients where there is traditionally a lower level of trust in the medical profession (understandably)."

SOURCE: Journal of Clinical Oncology, January 1, 2008; breastcancer.org

******