Cancer risk in Lynch Syndrome
Cancer risk in Lynch Syndrome
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DOI：
10.1007/s10689-013-9615-1
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发表时间：
2013-06-01
期刊：
影响因子：
2.2
通讯作者：
Evans, D. Gareth
中科院分区：
文献类型：
--
作者：
Barrow, Emma;Hill, James;Evans, D. Gareth
林奇综合征或遗传性非息肉病性结直肠癌 (HNPCC) 是一种常染色体显性癌症易感综合征，由 DNA 错配修复基因失活突变引起。它占所有结直肠癌发病率的 2-4%。突变携带者有患早发性结直肠癌、子宫内膜癌和一系列其他肿瘤的风险。准确估计突变携带者的癌症风险对于咨询和建立适当的筛查指南至关重要。这项研究回顾了有关癌症风险的当前数据以及新兴的风险降低策略。
Lynch Syndrome, or hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by inactivating mutations in DNA mismatch repair genes. It accounts for 2-4 % of all incident colorectal cancers. Mutation carriers are at risk of early onset colorectal cancer, endometrial cancer, and a spectrum of other tumours. Accurate estimation of cancer risk for mutation carriers is essential for counselling, and establishing appropriate screening guidelines. This study reviews the current data on cancer risk, and emerging risk reduction strategies.