Endometrial cancer and Lynch syndrome: clinical and pathologic considerations.
Endometrial cancer and Lynch syndrome: clinical and pathologic considerations.
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DOI：
10.1177/107327480901600103
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发表时间：
2009-01
期刊：
影响因子：
--
通讯作者：
Lu KH
中科院分区：
文献类型：
--
作者：
Meyer LA;Broaddus RR;Lu KH
大约2%至5%的子宫内膜癌可能是由于遗传易感性。Lynch综合征，也称为遗传性非息肉病性结直肠癌（HNPCC）综合征，是一种常染色体显性遗传性癌症易感性综合征，由DNA错配修复基因之一的种系突变引起，占大多数遗传病例。林奇综合征与癌症的早期发作和多种癌症类型的发展有关，特别是结肠癌和子宫内膜癌。现就Lynch综合征相关子宫内膜癌的诊断、筛查和预防方法进行综述。Lynch综合征女性患子宫内膜癌的终生累积风险为40%至60%，等于或超过其患结直肠癌的风险。与散发病例相比，目前没有证据表明与Lynch综合征相关的子宫内膜癌的生存优势或劣势。家族和个人病史与肿瘤检测相结合，为诊断子宫内膜癌妇女的Lynch综合征提供了有效的组合。目前Lynch综合征妇女的妇科癌症筛查指南包括每年子宫内膜取样和30至35岁开始的经阴道超声检查。诊断患有Lynch综合征的子宫内膜癌患者对个人和家庭成员具有重要的临床意义。筛查和预防措施可以降低患其他癌症的可能性。
Approximately 2% to 5% of endometrial cancers may be due to an inherited susceptibility. Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, an autosomal-dominant inherited cancer susceptibility syndrome caused by a germline mutation in one of the DNA mismatch repair genes, accounts for the majority of inherited cases. Lynch syndrome is associated with early onset of cancer and the development of multiple cancer types, particularly colon and endometrial cancer. The current status of knowledge regarding Lynch syndrome-associated endometrial cancer and methods for diagnosis, screening and prevention of cancers are reviewed. The lifetime cumulative risk of endometrial cancer for women with Lynch syndrome is 40% to 60%, which equals or exceeds their risk of colorectal cancer. No current evidence suggests either a survival advantage or disadvantage to endometrial cancer that is associated with Lynch syndrome when these cases are compared with sporadic cases. A combination of family and personal medical history and tumor testing provides an efficient combination for diagnosing Lynch syndrome in women with endometrial cancer. Current gynecologic cancer screening guidelines for women with Lynch syndrome include annual endometrial sampling and transvaginal ultrasonography beginning at age 30 to 35 years. Diagnosing endometrial cancer patients with Lynch syndrome has important clinical implications for the individual and family members. Screening and prevention practices can decrease the likelihood of developing additional cancers.
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影响因子：
64.8
作者：
BRONNER, CE;BAKER, SM;LISKAY, RM
通讯作者：
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影响因子：
45.3
作者：
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影响因子：
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作者：
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影响因子：
6.4
作者：
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通讯作者：
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影响因子：
64.5
作者：
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通讯作者：
KOLODNER, R