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The impact of an initial diagnosis of breast cancer can be devastating. After dealing with the emotional impact of the diagnoses and processing new and unfamiliar information, difficult decisions need to be made. One of the most difficult decisions is related to the extend of the surgical treatment required: is a lumpectomy better than a mastectomy with reconstructive surgery? The decision is not easy. Knowing the risk of recurrence may help in making the right decision. Many women diagnosed with breast cancer meet national NCCN guidelinesrecommending testing for mutations in the BRCA 1 and BRCA 2 genes. Having such a mutation may carry a substantial risk of future breast or ovarian cancer. In turn, having this information may directly impact treatment decisions.

Results from a retrospective study published online in the June 2014 issue of Gynecological Oncology, shows that 7 in 10 women with breast cancer who undergo recommended testing before surgery and test positive, change their surgical plan. In most cases these women select a more extensive surgical procedure such as a double mastectomy and sometimes ovary removal.[1]


Women diagnosed with breast cancer meeting NCCN referral guidelines should have their genetic evaluation prior to surgical intervention…


Focus on prevention
“As soon as somebody hears they have a 65% chance of a new breast cancer in the future or an up to 60% chance of ovarian cancer, they are likely to do whatever they can to prevent that,” noted lead author Elizabeth Lokich, MD, an obstetrics and gynecology fellow at the Warren Alpert Medical School of Brown University and at Women & Infants Hospital.

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In the article, the authors recommend that women who meet National Comprehensive Cancer Network (NCCN) guidelines for genetic testing get the test before deciding on their surgery. “Particularly because of what we found ? that it changes their surgical planning ? it really makes the most sense to have this evaluation done pre-operatively,” Lokich further commented.

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Making decisions
The study was based on a retrospective review of the records of 302 Women & Infants breast cancer patients who had undergone preoperative genetic testing between 2006 and 2012 because they met the NCCN guidelines. Within that group, 32 learned that they carried a mutation in their BRCA 1 or BRCA 2 genes. With that information, 71.9%, or 23, of the women who tested positive changed their surgical plan compared to only 28.9% of women who tested negative.

Among women who carried the mutation, 31.3% chose lumpectomies, while 59.4% chose double mastectomies and one in eight chose ovary removal. Women who tested negative generally chose lumpectomies (58.5%). Only 20.7% of the women in this category chose double mastectomy. Nobody opted to have their ovaries removed.

Stress and timing
Although genetic testing may provide important information, many women who meet the NCCN guidelines do not have a preoperative genetic test. Until now, physicians had not studied the effect of a positive BRCA mutation test on surgical decision-making. Furthermore, Some physicians have argued that testing would add too much stress, especially at the time of diagnosis. Others have argued that there is no optimal timing for a referral to a cancer genetic specialist.

While Lokich acknowledged, that some women choose not to be tested. However, she also noted that other studies suggest that genetic testing doesn’t add much stress overall. Instead, the, she explains: “The likely reason most women in the study who tested positive for BRCA mutation changed their surgery plan from lumpectomy to double mastectomy, is knowing their status.”

Postponing treatment
In the study Lokich and her colleagues found that genetic testing significantly delayed getting to surgery. However, in the majority of cases the delay in making a decision was not by enough to postpone it past the 90 days post-diagnosis that studies have shown to be clinically significant.

The authors recommend that women meeting NCCN referral guidelines have their genetic evaluation done prior to surgical intervention.

For more information:
[1] Lokich E, Stuckeya A, Rakerb C, Wilbura JS, Laprisea J, Gassa J. Preoperative genetic testing affects surgical decision making in breast cancer patients. Gynecologic Oncology. June 5, 2014 (InPress) [Article]

Photo: Elizabeth Lokich, MD. Photo Courtesy: Brown University, Providence, Rhode Island 02912, USA.Graphic: A new study found that women with breast cancer often change their surgical treatment plan when they learn preoperatively that they have a BRCA gene mutation. The bar chart above shows the women’s ultimate plans by their BRCA status. Courtesy: Brown University/Infogr.am

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