P2-13-06: Feasibility of Fast-Track Germline Genetic Analyses for Localized Breast Cancer Patients and Its Impact on Local Management.
Authors: Caron O , Guillaud-Bataille M , Bressac B , Rimareix F , Karsenti G , Leymarie N , Gouy S , Uzan C , Guillemeau C , Bourgier C , Heymann S , Frebourg T , Delaloge S 
Published: June 2012

Background

Patients with BRCA1-BRCA2 germline mutation who developed a first breast cancer (BC) have a high risk to develop a second BC, especially if aged less than 40 at first diagnosis. Thus, a positive BRCA test may influence the therapeutic management and orients towards non conservative surgery to reduce new BC occurrence. We set up a fast-track process to get BRCA1/2 and sometimes p53 mutation results within the shortest possible interval, in recently diagnosed BC patients whose probability to be mutation carriers was high (&gt; 20%).

Methods: Between 05/02/2009 and 03/01/2011, 61 patients diagnosed with localized BC requesting neo-adjuvant or adjuvant chemotherapy and whose personal or familial history fulfilled BRCA1/2 or P53 genetic testing criteria, were proposed genetic counselling. After a first multisciplinary team meeting (MT), genetic testing was proposed and performed according to usual genetic counselling rules. Psychological support was offered at every step of the process. Patients were informed that their test would be analysed as part of a fast-track process and were aware of the potential consequences of a positive test. Results were communicated and discussed during a second MT, when initial therapeutic plan was eventually changed.

Results: All women who were referred to the genetic clinic for fasttrack testing accepted the analysis. The mean age at diagnosis was 38 (range 26–55). The whole process (from 1st genetic consultation till disclosure consultation) was completed in a median interval of 99 days (range 19–245). All pts received appointment within 5 days, when results were available. 50% pts postponed for more than 15 days their disclosure appointment (range 0–113 days). One patient (pt) declined result disclosure. 18 pts (30%) were found to be carrier of a deleterious mutation (13 BRCA1, 4 BRCA2, 1 p53). Variants of unknown significance (UV) in BRCA1 or BRCA2 genes were identified in another 4 patients. In 18 cases, surgery type initially proposed was changed because of the presence of the germline mutation: all pts were proposed ipsilateral mastectomy eventually associated to immediate reconstruction as often possible, as well as controlateral mastectomy. Final surgery turned to bilateral mastectomy in 3 patients with deleterious BRCA mutation and in one suspect UV 14 patients with mutation accepted the change, but four BRCA2 and one BRCA1 mutation carriers refused mastectomy or bilateral mastectomy. Radiotherapy was cancelled in a p53 mutation carrier.

Conclusion: This data show that genetic testing might be considered as a part of therapeutic decision. Moreover, 22% (4/18) opted for a simultaneous controlateral prophylactic mastectomy. On the other hand, some women did not change their mind with mutation knowledge (4/18, 22%). Psychological impact of this procedure is currently retrospectively assessed by a self-questionnaire, fulfilled by mail. Analyses will be available for the meeting.

Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P2-13-06.