title: [INSERM-FNCLCC collective expertise. Recommendations for medical management of women with genetic risk of developing breast and/or ovarian cancer].
abstract: BACKGROUND
  Almost 10% of breast and ovarian cancer are inherited, and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite the uncertainty in the management of women gene carriers, consensus guidelines were defined to assist practitioners', and patients' decisions about the health care decisions to be made.
  
  
  METHODS
  The Ad Hoc Committee consisted of 14 experts designated by the French National Institute for Health and Medical Research. They all attended eleven workshops at which a systematic analytical review of more than 3500 articles was carried out. Five additional experts critically analysed the first version of the report. CRITERIA AND DECISION PROCESS: Two thresholds were defined on a probability 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 can be envisaged or recommended; the second is that under which an intervention can be ruled out; between the two, the decision has to be made on a each by case basis. STRATEGIES ANALYZED: About breast cancer: 1) hormonal interventions; 2) primary prevention (diet, family planning and chemoprevention); 3) screening (breast self-examination, clinician breast examination, tumor markers, imaging); 4) prophylactic mastectomy. About ovarian cancer: 1) hormonal stimulation; 2) screening (clinical screening, ultrasound and tumor markers); 3) prophylactic oophorectomy.
  
  
  CONCLUSIONS
  With each strategy the following points were dealt with; the information to be delivered to the Consultant, the procedure and the indications. In addition, the Committee's opinion about BRCA1 and BRCA2 mutation screening is that population-based or even large scale implementation are not justified. Although no scientific evidence is available, the Committee feels that specific management is indispensable and advocates the use of defined and evaluated procedures, and involvement in clinical trials.
authors.affiliation: Institut Paoli-Calmettes, Marseille, France. eisinger@marseille.inserm.fr
authors.forename: F
authors.initials: F
authors.lastname: Eisinger
authors.forename: N
authors.initials: N
authors.lastname: Alby
authors.forename: A
authors.initials: A
authors.lastname: Bremond
authors.forename: J
authors.initials: J
authors.lastname: Dauplat
authors.forename: M
authors.initials: M
authors.lastname: Espié
authors.forename: P
authors.initials: P
authors.lastname: Janiaud
authors.forename: F
authors.initials: F
authors.lastname: Kuttenn
authors.forename: J P
authors.initials: JP
authors.lastname: Lebrun
authors.forename: J P
authors.initials: JP
authors.lastname: Lefranc
authors.forename: J
authors.initials: J
authors.lastname: Pierret
authors.forename: H
authors.initials: H
authors.lastname: Sobol
authors.forename: D
authors.initials: D
authors.lastname: Stoppa-Lyonnet
authors.forename: D
authors.initials: D
authors.lastname: Thouvenin
authors.forename: H
authors.initials: H
authors.lastname: Tristant
authors.forename: J
authors.initials: J
authors.lastname: Feingold
mesh_terms: D019313:BRCA1 Protein / Q000032:analysis / Q000235:genetics; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D019468:Disease Management; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009363:Neoplasm Proteins / Q000032:analysis / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D012307:Risk Factors; D014157:Transcription Factors / Q000032:analysis / Q000235:genetics
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors