Eisinger F, Alby N, Bremond A, Dauplat J, Espié M, Janiaud P, Kuttenn F, Lebrun J P, Lefranc J P, Pierret J, Sobol H, Stoppa-Lyonnet D, Thouvenin D, Tristant H, Feingold J
Institut Paoli-Calmettes, Marseille, France.
Ann Genet. 1999;42(1):51-64.
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.
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.
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.
近10%的乳腺癌和卵巢癌是遗传性的，其中大多数与BRCA1和BRCA2种系突变有关。尽管基因携带者女性的管理存在不确定性，但已制定了共识指南，以协助从业者和患者做出医疗保健决策。
特设委员会由法国国家健康与医学研究所指定的14名专家组成。他们都参加了11次研讨会，对3500多篇文章进行了系统的分析性综述。另外5名专家对报告的初稿进行了严格分析。标准和决策过程：在概率尺度上定义了两个阈值，给出患乳腺癌或卵巢癌的风险，作为决定干预是否值得的一种手段。第一个阈值是可以设想或推荐干预的阈值；第二个阈值是可以排除干预的阈值；在两者之间，必须逐案做出决定。分析的策略：关于乳腺癌：1）激素干预；2）一级预防（饮食、计划生育和化学预防）；3）筛查（乳房自我检查、临床医生乳房检查、肿瘤标志物、影像学检查）；4）预防性乳房切除术。关于卵巢癌：1）激素刺激；2）筛查（临床筛查、超声检查和肿瘤标志物）；3）预防性卵巢切除术。
对于每种策略，都处理了以下几点；应向顾问提供的信息、程序和适应症。此外，委员会对BRCA1和BRCA2突变筛查的意见是，基于人群甚至大规模实施是不合理的。尽管没有科学证据，但委员会认为具体管理是必不可少的，并主张使用已定义和评估的程序，并参与临床试验。
