Recommendations for medical management of hereditary breast and ovarian cancer: The INSERM-FNCLCC ad hoc committee

Background : Almost 10% of breast and ovarian cancer are inherited and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite the unce rtainty, consensus guidelines were defined to assist practitioners', and pa tients decisions about the health care decisions to be made. Methodology: The Ad Hoc Committee consisted of 14 experts designated by the French National Institute Sor Health and Medical Research. They all attend ed eleven workshops at which a systematic analytical review of more than 35 00 articles was carried out. Five additional experts critically analyzed th e first version of the report. Process : Two thresholds were defined on a p robability scale giving the risk of developing breast or ovarian cancer; to serve as a means of deciding as whether an intervention is worthwhile. The first threshold is that above which an intervention carr be envisaged or r ecommended; the second is that under which an intervention cart be ruled ou t; between the two, the decision has to be made on a each by case basis. Sc reening and preventive strategies Analysed: about breast cancer : 1) hormon al interventions; 2) primary prevention (diet, family planning and chemopre vention); 3) screening (breast self-examination, clinician breast examinati on, tumor markers, imaging); (4 prophylactic mastectomy. About ovarian canc er: 1) hormonal stimulation; 2) screening (clinical screening ultrasound an d tumor markers); 3) prophylactic oophorectomy. Main conclusion: With each strategy the following points were dealt with : the information to be delivered to the consult and, the procedure and the i ndictions. The committee's opinion about BRCA mutation screening is the pop ulation-based or even large scale implementation are not justified. The Com mittee feels that specific management is indispensable and advocates the us e of defined and evaluated procedures, and involvement in clinical trials.