Thorson A G, Knezetic J A, Lynch H T
Department of Surgery, Creighton University School of Medicine, Omaha, Nebraska 68131-2197, USA.
Dis Colon Rectum. 1999 Jan;42(1):1-9. doi: 10.1007/BF02235175.
One of the earliest references to heredity in colorectal cancer dates to Aldred Warthin's now-famous recollection of his seamstress' distress regarding "cancer excess" in her family history. Her prediction of an early demise secondary to cancer of the female organs, colon, or stomach proved true. The slow, arduous investigation that ensued followed a tortuous route of nearly eight decades before the implications of such family histories were widely acknowledged through the designation of hereditary nonpolyposis colorectal cancer or Lynch Syndrome Variants I and II. The story of hereditary nonpolyposis colorectal cancer is one of chance meetings, the selfless sharing of information, perseverance in the face of adversity, meticulous scientific documentation, and ultimate vindication by a scientific process that yielded molecular genetic evidence through the identification of the culprit mutations (hMSH2, hMLH1, hPMS2, and hMSH6). Our purpose is to provide a brief outline of the course charted by the study of the genetics of hereditary nonpolyposis colorectal cancer. This should be of particular interest to the readers of this Journal as we celebrate 100 years of dedication to the diagnosis and treatment of diseases of the colon, rectum, and anus through the efforts of The American Society of Colon and Rectal Surgeons.
对结直肠癌遗传因素的最早提及之一可追溯到阿尔德雷德·沃辛（Aldred Warthin），他回忆起自己的裁缝因家族病史中存在“癌症高发”而感到苦恼，这件事如今已广为人知。她预测自己会因女性器官、结肠或胃癌而过早离世，这一预测后来被证实是正确的。随后展开的缓慢而艰巨的调查历经了近八十年的曲折历程，才通过将遗传性非息肉病性结直肠癌或林奇综合征I型和II型加以认定，使此类家族病史的影响得到广泛认可。遗传性非息肉病性结直肠癌的故事充满了偶然相遇、信息的无私分享、面对逆境时的坚持不懈、细致的科学记录，以及最终通过科学过程得以昭雪，该过程通过识别致病突变（hMSH2、hMLH1、hPMS2和hMSH6）产生了分子遗传学证据。我们的目的是简要概述遗传性非息肉病性结直肠癌遗传学研究的历程。鉴于美国结肠和直肠外科医师协会致力于结肠、直肠和肛门疾病的诊断与治疗已达百年，本刊读者对此应该会特别感兴趣。
