Society of Gynecologic Oncologists education committee statement on risk assessment for inherited gynecologic cancer predispositions
Society of Gynecologic Oncologists education committee statement on risk assessment for inherited gynecologic cancer predispositions
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DOI：
10.1016/j.ygyno.2007.09.031
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发表时间：
2007-11-01
影响因子：
4.7
通讯作者：
Herzog, Thomas J.
中科院分区：
文献类型：
--
作者：
Lancaster, Johnathan M.;Powell, C. Bethan;Herzog, Thomas J.
与遗传性乳腺/卵巢癌综合征有关的癌症易感基因，BRCAI或BRCA2的生殖突变的妇女具有高达85％的终身乳腺癌风险，并且寿命危险率高达46％。同样，与Lynch/遗传性非型型结直肠癌（HNPCC）综合征相关的DNA不匹配修复基因，MLH1，MSH2或MSH6中具有突变的女性具有多达40-60％的子宫内膜癌和大肠癌的寿命风险，以及9-12％的卵巢癌风险。遗传风险评估使医生能够对拥有这些妇科癌症之一的可能性进行个性化评估，以及提供量身定制的筛查和预防策略的机会与这些综合征。遗传性癌症风险评估是一个过程，包括评估具有癌症遗传学专业知识的提供商进行的风险，教育和咨询的评估，并且可能在获得适当同意后包括基因检测。该评论提供了有关鉴定可能受益于遗传性癌症/卵巢癌和Lynch/遗传性非型物结节癌综合征的患者的指南。 （c）2007 Elsevier Inc.保留所有权利。
Women with germline mutations in the cancer susceptibility genes, BRCAI or BRCA2, associated with Hereditary Breast/Ovarian Cancer syndrome, have up to an 85% lifetime risk of breast cancer and up to a 46% lifetime risk ovarian cancer. Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2 or MSH6, associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome, have up to a 40-60% lifetime risk of both endometrial and colorectal cancer as well as a 9-12% lifetime risk of ovarian cancer. Genetic risk assessment enables physicians to provide individualized evaluation of the likelihood of having one of these gynecologic cancer predisposition syndromes, as well the opportunity to provide tailored screening and prevention strategies such as surveillance, chemoprevention, and prophylactic surgery that may reduce the morbidity and mortality associated with these syndromes. Hereditary cancer risk assessment is a process that includes assessment of risk, education and counseling conducted by a provider with expertise in cancer genetics, and may include genetic testing after appropriate consent is obtained. This commentary provides guidance on identification of patients who may benefit from hereditary cancer risk assessment for Hereditary Breast/Ovarian Cancer and the Lynch/Hereditary Non-Polyposis Colorectal Cancer syndrome. (c) 2007 Elsevier Inc. All rights reserved.