RECOMMENDATIONS FOR MEDICAL-MANAGEMENT OF HEREDITARY BREAST AND OVARIAN-CANCER - THE FRENCH NATIONAL AD HOC COMMITTEE

Background and purpose: Almost 10% of breast and ovarian cancers are f amilial, and the majority are linked to BRCA1 and BRCA2 germline mutat ions, Despite uncertainty about the management of female gene carriers , consensus guidelines have been established to assist practitioners a nd consultees in making health care decisions. Methodology: The Ad Hoc Committee was composed of 14 experts appointed by the French National Institute for Health and Medical Research, all of whom attended eleve n workshops at which more than 3500 articles were systematically analy zed. Five additional experts critically analysed the first version of the report. Criteria and decision process: On a probability scale of t he risk of developing breast or ovarian cancers, two thresholds were d efined for use in determining whether an intervention would be worthwh ile. The first is the threshold above which an intervention can be env isaged or recommended, and the second is the one below which an interv ention can be ruled out: between the two, the decision has to be made on a case-by-case basis. Screening and preventive strategies analyzed. With respect to breast cancer: 1) hormonal interventions; 2) primary prevention (diet, family planning and chemoprevention); 3) screening ( breast self-examination, clinician breast examination, tumor markers, imaging); 3) prophylactic mastectomy, With respect to ovarian cancer: 1! hormonal stimulation; 2) screening (clinical screening, ultrasound and tumor markers); 3) prophylactic oophorectomy. Main conclusions. Fo r each strategy the following points were addressed: the information t o be given to the consultee, the procedure and the indications. In add ition, the committee's opinion about BRCA1 and BRCA2 mutation screenin g is that population-based, or even large-scale, implementation are no t justified. Although no scientific evidence is available, the committ ee feels that specific management is indispensable and advocates the u se of defined and evaluated procedures, and participation in clinical trials.