Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014
Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014
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DOI：
10.6004/jnccn.2014.0127
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发表时间：
2014-09-01
影响因子：
13.4
通讯作者：
Kumar, Rashmi
中科院分区：
文献类型：
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作者：
Daly, Mary B.;Pilarski, Robert;Kumar, Rashmi
在过去的几年中，已经确定了几种可能导致乳腺癌和/或卵巢癌发生风险增加的遗传畸变。NCCN遗传/家族性高风险评估指南：乳腺和卵巢特别关注BRCA 1/BRCA 2，TP 53和PTEN基因突变的评估，并建议对具有这些突变的个体进行基因检测/咨询和管理策略。NCCN指南的这一部分包括关于Cowden综合征/PTEN错构瘤肿瘤综合征患者的诊断标准和管理的建议。
During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations. This portion of the NCCN Guidelines includes recommendations regarding diagnostic criteria and management of patients with Cowden Syndrome/PTEN hamartoma tumor syndrome.