Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy.
Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy.
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DOI：
10.1038/ajg.2009.135
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发表时间：
2009-06
影响因子：
9.8
通讯作者：
Syngal, Sapna
中科院分区：
文献类型：
--
作者：
Kastrinos, Fay;Allen, John I.;Stockwell, David H.;Stoffel, Elena M.;Cook, Earl F.;Mutinga, Muthoka L.;Balmana, Judith;Syngal, Sapna
遗传性结直肠癌（CRC）的诊断标准很复杂。“开放式”结肠镜检查使得确定需要基因评估、强化监测和结肠外肿瘤筛查的患者具有挑战性。我们的目的是开发一种简单的手术前风险评估工具，以确定谁可能是CRC的最高风险。631名在两家学术机构接受结肠镜检查的门诊患者完成了一份问卷，评估结直肠癌、息肉和Lynch综合征（LS）相关恶性肿瘤的个人和家族史。如果符合遗传性CRC综合征的九个预先规定的特征之一，受试者被认为是高风险的。通过递归划分分析，提出了一种用最少问题捕获最多高危个体的算法。研究人员对5335名在5家私人内窥镜中心接受结肠镜检查的个体进行了验证，并对285名与LS相关的错配修复（MMR）突变携带者进行了测试。在开发和验证队列中，分别有17.7%和20.0%的个体被归类为高风险。递归划分揭示了识别高危患者最具信息量的三个问题：1。“你是否有一级亲属（FDR）在50岁之前被诊断患有结直肠癌或与ls相关的癌症？”2.“你在50岁之前有过结直肠癌或息肉吗？”3.“你是否有3个以上的亲属患有结直肠癌？”当连续询问时，这些问题确定了两个队列中77%的高危个体和271/285（95%）的突变携带者。大约五分之一接受结肠镜检查的人将受益于进一步的风险评估。我们开发了一个简单的，有三个问题的CRC风险评估工具，以确定大多数需要额外评估和可能的遗传评估的患者。
Diagnostic criteria for hereditary colorectal cancer (CRC) are complex. “Open-access” colonoscopy makes it challenging to identify who needs genetic evaluation, intensive surveillance, and screening for extracolonic tumors. Our aim was to develop a simple, pre-procedural risk assessment tool to identify who may be at highest risk for CRC. 631 outpatients undergoing colonoscopy at two academic practices completed a questionnaire assessing personal and family history of CRC, polyps, and Lynch Syndrome (LS)-associated malignancies. Subjects were considered high-risk if one of nine prespecified characteristics of hereditary CRC syndromes were met. Through recursive partitioning analysis, an algorithm of fewest questions needed to capture the most high-risk individuals was developed. Results were validated in 5335 individuals undergoing colonoscopy at five private endoscopy centers and tested in 285 carriers of mismatch repair (MMR) mutations associated with LS. 17.7% and 20.0% of individuals were classified as high-risk in the development and validation cohorts, respectively. Recursive partitioning revealed three questions most informative for identifying high-risk patients:1.“Do you have a first-degree relative (FDR) with CRC or LS-related cancer diagnosed before age 50?” 2.“Have you had CRC or polyps diagnosed before age 50?” 3.“Do you have ≥ 3 relatives with CRC?” When asked successively, these questions identified 77% of high-risk individuals in both cohorts and 271/285 (95%) of mutation carriers. Approximately one in five individuals undergoing colonoscopy would benefit from further risk assessment. We developed a simple, three-question CRC Risk Assessment Tool to identify the majority of patients who require additional assessment and possible genetic evaluation.
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DOI：
10.7326/0003-4819-135-8_part_1-200110160-00007
发表时间：
2001-10-16
影响因子：
39.2
作者：
Raedle, J;Trojan, J;Zeuzem, S
通讯作者：
Zeuzem, S
影响因子：
12.6
作者：
Grover, Shilpa;Stoffel, Elena M.;Syngal, Sapna
通讯作者：
Syngal, Sapna
影响因子：
158.5
作者：
GOLDMAN, L;COOK, EF;JAKUBOWSKI, R
通讯作者：
JAKUBOWSKI, R
影响因子：
24.5
作者：
Kievit, W;de Bruin, JHFM;Hoogerbrugge, N
通讯作者：
Hoogerbrugge, N
影响因子：
120.7
作者：
Balmana, Judith;Stockwell, David H.;Syngal, Sapna
通讯作者：
Syngal, Sapna