通过建立遗传性结直肠癌登记处来增加林奇综合征的检出率。

Division of General Surgery, Vanderbilt University Medical Center, Nashville, TN 37232-2543, USA.

Dis Colon Rectum. 2013 Mar;56(3):308-14. doi: 10.1097/DCR.0b013e31827edfff.

BACKGROUND

Lynch syndrome contributes to 5% of all colorectal cancers. Patients seen in most surgical clinics have limited or no family histories documented and are rarely assessed for hereditary syndromes. In 2007 a clinic-based hereditary colorectal cancer registry was established to screen for Lynch syndrome and facilitate genetic counseling/testing.

OBJECTIVE

To evaluate the effectiveness of the hereditary colorectal cancer registry to identify high-risk colorectal cancer patients and have them referred for genetic counseling/testing for Lynch syndrome.

DESIGN

A retrospective review and cohort comparison of both prospectively collected and retrospective data.

SETTING

The colorectal surgical clinic at Vanderbilt University Medical Center.

PATIENTS

All newly diagnosed colorectal cancer patients seen between January 2006 and October 2010.

MAIN OUTCOME MEASURES

To assess the identification of colorectal cancer patients at high risk for Lynch syndrome and for the occurrence of genetic counseling/testing before and after the establishment of a hereditary registry by comparing the results from the colorectal cancer patients seen the year prior to the establishment of the registry (January - December 2006, "control period") with those patients seen after initiation of the registry (January 2007 - October 2010, "registry period").

RESULTS

During the "registry period," 495 colorectal cancer patients were seen in the clinic and 257 (51.9%) were high risk for Lynch syndrome. Forty-nine patients (9.8%) underwent genetic testing, with 27 (5.4%) positive for a gene mutation, of which half were >50 years old. By comparison, in 2006, 115 colorectal cancer patients were seen in the clinic but only 4 patients (3.5%) went on for further assessment, and only 1 had genetic testing. Retrospective assessment showed that at least 22 patients (19.1%) had warranted further investigation in 2006.

LIMITATIONS

This was a single-institution, retrospective review.

CONCLUSION

Establishment of a hereditary colorectal cancer registry with a clinic-based protocol improves identification of Lynch syndrome.

背景

林奇综合征占所有结直肠癌的 5%。大多数外科诊所中见到的患者记录的家族病史有限或没有，很少对遗传性综合征进行评估。2007 年，建立了一个基于诊所的遗传性结直肠癌登记处，以筛查林奇综合征并为其提供遗传咨询/检测。

目的

评估遗传性结直肠癌登记处识别高危结直肠癌患者并将其转介进行林奇综合征遗传咨询/检测的有效性。

设计

前瞻性和回顾性数据的回顾性分析和队列比较。

地点

范德比尔特大学医学中心的结直肠外科诊所。

患者

2006 年 1 月至 2010 年 10 月间新诊断为结直肠癌的所有患者。

主要观察指标

通过比较登记处建立前一年（2006 年 1 月至 12 月，“对照期”）和登记处建立后（2007 年 1 月至 2010 年 10 月，“登记期”）就诊的结直肠癌患者的结果，评估登记处建立前后识别结直肠癌患者林奇综合征高危人群的情况和遗传咨询/检测的发生情况。

结果

在“登记期”内，诊所共诊治了 495 例结直肠癌患者，其中 257 例（51.9%）存在林奇综合征高危因素。49 例患者（9.8%）接受了基因检测，其中 27 例（5.4%）基因突变阳性，其中一半患者年龄>50 岁。相比之下，2006 年，诊所共诊治了 115 例结直肠癌患者，但只有 4 例（3.5%）进一步评估，只有 1 例进行了基因检测。回顾性评估显示，2006 年至少有 22 例（19.1%）需要进一步调查。