Matthew B. Yurgelun

Matthew Yurgelun is a nationally recognized expert in hereditary gastrointestinal cancer syndromes, with particular expertise in Lynch syndrome — the most common form of hereditary colorectal cancer — and related mismatch repair (MMR)-deficient malignancies. As Director of the Lynch Syndrome Center at Dana-Farber Cancer Institute and Associate Professor at Harvard Medical School, he leads clinical and translational research programs focused on risk stratification, cancer prevention, surveillance, and germline genetic testing across hereditary GI cancer syndromes. Lynch syndrome is caused by germline mutations in the DNA mismatch repair (MMR) genes — MLH1, MSH2, MSH6, and PMS2 — and confers substantially elevated lifetime risks of colorectal, endometrial, ovarian, gastric, and urological cancers, among others. Yurgelun's research has contributed to establishing universal tumor MMR testing (immunohistochemistry or microsatellite instability analysis) as the standard approach for identifying Lynch syndrome in newly diagnosed colorectal and endometrial cancer patients. He has been instrumental in demonstrating that reflex MMR testing — applying the test to all newly diagnosed GI cancer patients rather than only those meeting clinical criteria — identifies a substantially larger proportion of Lynch syndrome carriers who would otherwise be missed. Yurgelun's work has also addressed the prevalence and clinical implications of germline cancer susceptibility variants in unselected colorectal cancer populations. He led studies using multi-gene panel testing in large cohorts of CRC patients, revealing that a significant proportion carry pathogenic variants in cancer predisposition genes beyond MMR — including BRCA1/2, MUTYH, and APC — that have actionable clinical implications for both the patient and their family members. These findings challenged prior criteria-based germline testing approaches and supported broader testing strategies. In clinical management, Yurgelun has contributed extensively to evidence-based guidelines for colonoscopic surveillance in Lynch syndrome, risk-reducing surgery counseling, and aspirin chemoprevention — notably integrating data from the CAPP2 trial demonstrating aspirin's efficacy in reducing Lynch syndrome-associated cancer risk. He leads multi-institutional research collaborations and serves on the National Comprehensive Cancer Network (NCCN) genetics panels for CRC.

Matthew Yurgelun 是遗传性胃肠道癌症综合征领域的国家认可专家，尤其专注于Lynch综合征（最常见的遗传性结直肠癌形式）及相关错配修复缺陷恶性肿瘤。他担任丹娜-法伯癌症研究院Lynch综合征中心主任。 Yurgelun 的研究推动了对新诊断结直肠癌患者进行普遍肿瘤MMR检测作为识别Lynch综合征标准方法的建立，并通过多基因panel检测揭示了大批结直肠癌患者携带的胚系易感变异。他在Lynch综合征结肠镜监测、风险降低手术咨询和阿司匹林化学预防（基于CAPP2试验数据）方面做出重要贡献。