Background 16–25% of colorectal cancers (CRCs) diagnosed under age 50 are associated with hereditary cancer syndromes. Advanced adenomas are considered precursors to CRC. Although polyp removal prevents cancer, polypectomy does not change underlying genetic risk. Patients with isolated advanced polyps do not currently qualify for genetic testing unless they have a personal or family history of cancer. Aim Describe the prevalence of hereditary cancer syndromes among patients with advanced colorectal polyps. Methods We performed a single center retrospective review from 2015 to 2019 of patients who underwent germline genetic testing with indication for testing listed as colorectal polyp. We excluded patients with a personal history of CRC and those with ≥10 cumulative polyps. We collected patient demographics, polyp characteristics, family history data and genetic testing results from the medical record. Discrete variables were reported as frequency and percentages and continuous variables reported as mean with range. Results A total of 42 patients underwent genetic testing due to a personal history of advanced adenoma. 17% of patients met current genetic testing criteria. All patients underwent multi-gene panel testing. Two patients (4.8%) had a germline pathogenic mutation (one in MLH1 and one in CHEK2 ). The patient with an MLH1 mutation met current criteria for genetic testing (PREMM5 score 5.8), however the patient with the CHEK2 mutation did not. Both mutation carriers had a personal history of synchronous or metachronous advanced adenomas. 38% had a variant of uncertain significance. Conclusions 5% of patients with advanced adenomas in our retrospective series had a pathogenic germline mutation in a cancer predisposition gene. Though the patient with a pathogenic mutation in MLH1 met current clinical criteria for genetic testing, this was not recognized prior to referral; he was referred based on a personal history of advanced adenoma. Advanced polyps may be a red flag to identify patients who are at risk for hereditary cancer syndromes.

中文翻译：

---

晚期腺瘤可能是遗传性癌症综合征的危险信号

背景 50 岁以下诊断出的结直肠癌 (CRC) 中有 16-25% 与遗传性癌症综合征有关。晚期腺瘤被认为是 CRC 的前兆。虽然息肉切除可以预防癌症，但息肉切除术并不会改变潜在的遗传风险。孤立的晚期息肉患者目前没有资格进行基因检测，除非他们有个人或家族癌症史。目的 描述晚期结直肠息肉患者遗传性癌症综合征的患病率。方法 我们对 2015 年至 2019 年接受生殖系基因检测且检测指征列为结直肠息肉的患者进行了单中心回顾性研究。我们排除了有 CRC 个人史的患者和累积息肉≥10 个的患者。我们收集了患者的人口统计资料、息肉特征、来自病历的家族史数据和基因检测结果。离散变量报告为频率和百分比，连续变量报告为均值和范围。结果 共有 42 名患者因有晚期腺瘤的个人病史而接受了基因检测。17% 的患者符合当前的基因检测标准。所有患者都接受了多基因面板测试。两名患者 (4.8%) 具有种系致病突变（一名在 MLH1 中，一名在 CHEK2 中）。具有 MLH1 突变的患者符合当前的基因检测标准（PREMM5 评分 5.8），但具有 CHEK2 突变的患者不符合。两名突变携带者都有同步或异时晚期腺瘤的个人病史。38% 的变量具有不确定的显着性。结论 在我们的回顾性系列中，5% 的晚期腺瘤患者在癌症易感基因中有致病性种系突变。尽管具有 MLH1 致病性突变的患者符合当前的基因检测临床标准，但在转诊前并未发现这一点；他是根据晚期腺瘤的个人病史转诊的。晚期息肉可能是识别有遗传性癌症综合征风险的患者的危险信号。