A subset of colorectal cancer (CRC) cases are attributable to Lynch syndrome (LS), a hereditary form of CRC. Effective evaluation for LS can be done on CRC tumors to guide diagnostic testing. Increased diagnosis of LS allows for surveillance and risk reduction, which can mitigate CRC-related burden and prevent cancer-related deaths. We evaluated participation in LS screening among newly diagnosed adult CRC patients. Some cases were referred for genetics evaluation prior to study recruitment (selective screening). Those not referred directly were randomized to the intervention or control (usual care) arms. Control cases were observed for one year, then given information about LS screening. Patients who declined participation were followed through the medical record. Of 601 cases of CRC, 194 (32%) enrolled in our study and were offered LS screening, 43 (7%) were followed as a control group, 148 (25%) declined participation and 216 (36%) were ineligible [63 (10%) of which received prior selective screening]. Six and nine cases of LS were identified through the intervention and selective screening groups, respectively. Overall, a higher proportion of PMS2 variants were identified in the intervention (3/6, 50%) versus selective screening groups (2/9, 22%) (not statistically significant). Eighty-eight percent and 23% of intervention and control patients, respectively, received LS screening. No control patients were found to have LS. Systems-based approaches are needed to ensure we fully identify LS cases. The proportion of LS cases from this program was 4% of newly diagnosed cases of CRC, similar to other programs.

中文翻译：

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在综合卫生保健机构中实施林奇综合征的系统性肿瘤筛查程序。

大肠癌（CRC）病例的一部分可归因于Lynch综合征（LS），这是CRC的一种遗传形式。可以对CRC肿瘤进行LS的有效评估，以指导诊断测试。对LS的更多诊断有助于监视和降低风险，从而减轻CRC相关负担并预防与癌症相关的死亡。我们评估了新诊断的成人CRC患者参与LS筛查的情况。在招募研究人员（选择性筛选）之前，将一些病例转交给遗传学评估。未直接转诊的患者被随机分配至干预或控制（常规护理）部门。观察对照病例一年，然后提供有关LS筛查的信息。拒绝参与的患者将通过病历进行随访。在601例CRC病例中，有194例（32％）参加了我们的研究并接受了LS筛查，对照组为43（7％），拒绝参与的患者为148（25％），不符合条件的为216（36％）[其中63（10％）位接受了事先的选择性筛查]。通过干预组和选择性筛查组分别确定了6例和9例LS。总体而言，与干预筛选组（2 / 9，22％）相比，干预组（3 / 6，50％）中识别出PMS2变体（无统计学意义）。分别有88％和23％的干预和对照患者接受了LS筛查。没有发现对照患者患有LS。需要采用基于系统的方法来确保我们完全识别LS案例。与其他计划相似，来自该计划的LS病例占新诊断CRC病例的4％。