Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions
Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions
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DOI：
10.1016/j.ygyno.2014.09.009
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发表时间：
2015-01-01
影响因子：
4.7
通讯作者：
Richardson, Debra L.
中科院分区：
文献类型：
--
作者：
Lancaster, Johnathan M.;Powell, C. Bethan;Richardson, Debra L.
与遗传性乳腺癌和卵巢癌综合征相关的癌症易感基因BRCA1或BRCA2发生胚系突变的女性，一生患乳腺癌的风险高达85%，患卵巢、输卵管和腹膜癌的终身风险高达46%。同样，与Lynch/遗传性非息肉病性结直肠癌(HNPCC)综合征相关的DNA错配修复基因MLH1、MSH2、MSH6或PMS2突变的女性，一生患子宫内膜癌和结直肠癌的风险高达40%-60%，患卵巢癌的终身风险高达9%-12%。包括TP53、PTEN和STK11在内的其他基因的突变是导致与妇科、乳腺癌和其他癌症相关的遗传综合征的原因。对患者罹患这些妇科癌症易感综合征之一的可能性进行评估，使医生能够提供癌症风险的个体化评估，并有机会提供量身定制的筛查和预防策略，如监测、化学预防和预防性手术，以降低与这些综合征相关的发病率和死亡率。评估遗传性癌症综合征的存在是一个过程，包括评估临床和肿瘤特征，由具有癌症遗传学专业知识的提供者进行教育和咨询，并可能包括在获得适当同意后进行基因测试。这篇评论为确定哪些患者可能受益于遗传性乳腺癌和/或妇科癌症综合征的评估提供了指导。(C)2014 Elsevier Inc.保留所有权利。
Women with germline mutations in the cancer susceptibility genes, BRCA1 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 of ovarian, tubal, and peritoneal cancers. Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome, have up to a 40-60% lifetime risk of both endometrial and colorectal cancers as well as a 9-12% lifetime risk of ovarian cancer. Mutations in other genes including TP53, PTEN, and STK11 are responsible for hereditary syndromes associated with gynecologic, breast, and other cancers. Evaluation of the likelihood of a patient having one of these gynecologic cancer predisposition syndromes enables physicians to provide individualized assessments of cancer risk, as well as 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. Evaluation for the presence of a hereditary cancer syndrome is a process that includes assessment of clinical and tumor characteristics, 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 assessment for the presence of a hereditary breast and/or gynecologic cancer syndrome. (C) 2014 Elsevier Inc. All rights reserved.