Recommendations for follow-up care of individuals with an inherited predisposition to Cancer. II. BRCA1 and BRCA2
Recommendations for follow-up care of individuals with an inherited predisposition to Cancer. II. BRCA1 and BRCA2
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对具有癌症遗传倾向的个体进行后续护理的建议。
DOI：
10.1001/jama.1997.03540360065034
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发表时间：
1997
期刊：
影响因子：
--
通讯作者：
C. Varricchio
中科院分区：
文献类型：
--
作者：
W. Burke;M. Daly;J. Garber;J. Botkin;M. J. Kahn;P. Lynch;A. McTiernan;K. Offit;J. Perlman;G. Petersen;E. Thomson;C. Varricchio
目标。-为携带BRCA1或BRCA2基因突变的个人提供癌症监测和降低风险的建议。与会者。-一个在医学遗传学、肿瘤学、初级保健、胃肠病学和流行病学方面具有专业知识的工作队，由癌症遗传学研究联盟(CGSC)召集，由国家人类基因组研究所(前国家人类基因组研究中心)组织。证据。-使用MEDLINE(国家医学图书馆)和由此确定的文章书目，确定了评估乳腺癌和卵巢癌遗传易感性个体的癌症风险、监测和降低风险的研究。使用的索引术语是“遗传学”与“乳腺癌”、“卵巢癌”、“筛查”或“监测”与“癌症家族”、“BRCA1”和“BRCA2”相结合。对于评估特定干预措施的研究，使用美国预防服务工作组的标准来评估证据的质量。协商一致的过程。-工作队通过14个月的讨论提出了建议。结论。-癌症监测或其他措施在携带致癌突变的个人中降低风险的有效性尚不清楚。根据专家关于假定益处的意见，建议对BRCA1突变的个体进行早期乳腺癌和卵巢癌筛查，对BRCA2突变的个体建议进行早期乳腺癌筛查。没有建议支持或反对预防性手术(例如，乳房切除、卵巢切除)；这些手术是突变携带者的一种选择，但缺乏有益的证据，病例报告记录了预防性手术后癌症的发生。建议对考虑进行基因检测的个体进行咨询，了解降低风险措施的未知有效性，并尽可能在旨在评估临床结果的研究方案的背景下，为患有癌症易感突变的个体提供护理。
Objective. —To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations in the BRCA1 or BRCA2 genes. Participants. —A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by National Human Genome Research Institute (previously the National Center for Human Genome Research). Evidence. —Studies evaluating cancer risk, surveillance, and risk reduction in individuals genetically susceptible to breast and ovarian cancer were identified using MEDLINE (National Library of Medicine) and from bibliographies of articles thus identified. Indexing terms used were "genetics" in combination with "breast cancer," "ovarian cancer," and "screening," or "surveillance" in combination with "cancer family" and " BRCA1 " and " BRCA2 ." For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force. Consensus Process. —The task force developed recommendations through discussions over a 14-month period. Conclusions. —Efficacy of cancer surveillance or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown. Based on expert opinion concerning presumptive benefit, early breast cancer and ovarian cancer screening are recommended for individuals with BRCA1 mutations and early breast cancer screening for those with BRCA2 mutations. No recommendation is made for or against prophylactic surgery (eg, mastectomy, oophorectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking, and case reports have documented the occurrence of cancer following prophylactic surgery. It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.
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对 BRCA1 乳腺癌和卵巢癌易感基因 80 个突变的合作调查。
DOI：
--
发表时间：
1995
期刊：
JAMA : the journal of the American Medical Association
影响因子：
--
作者：
Shattuck-Eidens,D;McClure,M;Simard,J;Labrie,F;Narod,S;Couch,F;Hoskins,K;Weber,B;Castilla,L;Erdos,M
通讯作者：
Erdos,M
影响因子：
56.9
作者：
WOOSTER, R;NEUHAUSEN, SL;STRATTON, MR
通讯作者：
STRATTON, MR
影响因子：
158.5
作者：
MANDEL, JS;BOND, JH;EDERER, F
通讯作者：
EDERER, F
影响因子：
9.8
作者：
Neuhausen, SL;Godwin, AK;Goldgar, D
通讯作者：
Goldgar, D
DOI：
10.1001/jama.1995.03530020055032
发表时间：
1995-07
期刊：
JAMA
影响因子：
--
作者：
J. Stanford;N. Weiss;L. Voigt;J. Daling;L. Habel;M. Rossing
通讯作者：
J. Stanford;N. Weiss;L. Voigt;J. Daling;L. Habel;M. Rossing