How do we approach the goal of identifying everybody with Lynch syndrome?
How do we approach the goal of identifying everybody with Lynch syndrome?
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DOI：
10.1007/s10689-013-9611-5
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发表时间：
2013-06
期刊：
影响因子：
2.2
通讯作者：
de la Chapelle, Albert
中科院分区：
文献类型：
--
作者：
Hampel, Heather;de la Chapelle, Albert
Lynch综合征（LS）是结直肠癌（CRC）和子宫内膜癌最常见的遗传原因。我们在此将LS定义为在四种错配修复（MMR）基因MSH 2、MLH 1、MSH 6和PMS 2或EPCAM之一中具有生殖系有害突变的个体[1]。目前，大多数被诊断患有LS的人已经患有结直肠癌（CRC）、子宫内膜癌（EC）或其他LS相关癌症;然而，在所有现有的LS携带者中，大多数人（尚未）患有癌症。LS目前严重诊断不足。Kaiser Permanente医疗保健系统中的III期和IV期CRC患者的最近研究[2]发现，家族史记录因研究中心而异，3个研究中心记录了70%病例的家族史，4个研究中心记录了超过85%病例的家族史。尽管事实上，在那些有记录的家族史中，61%的人有癌症亲属，其中20%的人至少有一个一级亲属患有CRC，但仍有5%的人接受了任何Lynch综合征检测[2]。基本上可以采取三种不同的方法来识别Lynch综合征患者：（1）目前的方法是教育提供者关于Lynch综合征，然后期望他们从患者中获取家族史并将合适的患者转诊进行癌症遗传学评估;（2）在诊断时筛查所有新诊断的CRC和EC患者的Lynch综合征;或（3）在出生时或成年早期筛查一般公众的Lynch综合征。由于很明显，目前的方法是不够的，我们在这里讨论后两种方法。
Lynch syndrome (LS) is the most common inherited cause of colorectal (CRC) and endometrial cancer. We here define LS as an individual with a germline deleterious mutation in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 or EPCAM [1]. Presently, most people diagnosed with LS have already had colorectal (CRC) endometrial (EC) or other LS-associated cancers; however, among all existing carriers of LS the majority has not (yet) had cancer. LS is currently seriously under-diagnosed. A recent study [2] of stages III and IV CRC patients in the Kaiser Permanente healthcare system found that family history documentation varied from site to site with 3 sites documenting family history on\70% of cases and 4 sites documenting family history in over 85% of cases. Despite the fact that in those with a documented family history, 61% had a relative with cancer and 20% of these had CRC in at least one first degree relative,\5% of the population received any Lynch syndrome testing [2]. There are essentially three different approaches that can be taken to identify individuals with Lynch syndrome:(1) The current approach which is to educate providers about Lynch syndrome and then expect that they take a family history from their patients and refer appropriate patients for a cancer genetics evaluation;(2) screen all newly diagnosed CRC and EC patients for Lynch syndrome at the time of diagnosis; or (3) screen the general public for Lynch syndrome either at birth or in early adulthood. Since it is clear that the current approach is not sufficient alone, we discuss the latter two approaches here.
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