Rapid BRCA Testing Informs Choice of Mastectomy

Lidia Schapira, MD


February 07, 2014

A Rapid Genetic Counselling and Testing in Newly Diagnosed Breast Cancer Is Associated With High Rate of Risk-Reducing Mastectomy in BRCA1/2-Positive Italian Women

Cortesi L, Razzaboni E, Toss A, et al
Ann Oncol. 2014;25:57-63

Study Summary

Italian researchers studied a rapid genetic counseling and testing intervention offered to women who had just been diagnosed with breast cancer and who were considered at risk of carrying BRCA1 or BRCA2 germline mutations. The investigators hypothesized that multidisciplinary approaches and rapid testing (3- to 4-week turnaround for results) could influence the choice of primary surgery, and they explored the psychological repercussions of this approach. This was an observational study with a retrospective design and was performed at the Modena Family Cancer Clinic in Italy.

In the traditional testing model, women who had already completed primary surgery for breast cancer were referred to a genetic counselor for consideration of testing. This typically took 6 months to complete. Of 1058 patients tested using this referral venue, 19.7% were mutation carriers. Of these, 4.7% chose to undergo a risk-reducing contralateral mastectomy. Among the 110 patients tested at the time of diagnosis using the rapid mechanism, 33% tested positive for a mutation; 42% of these women chose to have bilateral mastectomies, showing that knowledge of their carrier status influenced the choice of primary surgery and led to a decision to proceed with a contralateral prophylactic mastectomy.

Patients reported that they perceived that the surgery would help save their lives and that they were guided by feelings of responsibility to their children. Although all women were satisfied with their surgical choice, more extensive surgeries resulted in lower satisfaction with body image; the authors note, however, that patients were queried during the reconstruction process before it was complete, and this could have affected responses..

This study showed the importance of involving surgeons in the counselling process and the need to assist patients in having realistic expectations about surgical outcomes.


This study confirms the value of providing genetic counseling and testing to women at risk of carrying a BRCA mutation. The information allows them to make a wise and informed decision at the time of initial diagnosis and influences their choice of primary surgery. The number of women who chose to have a contralateral prophylactic mastectomy was significantly higher among those offered rapid testing.

Although the authors correctly state that more extensive surgery can cause psychological morbidity, ultimately these women were satisfied with their choice. Multidisciplinary interventions to help women understand their lifetime risk for cancer and to help guide and support them in making treatment choices are indispensable to ensure the best possible experience and quality care.



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