Margarida Dupont, G. Guidi, N. Tenreiro, Rita A. Marques, João A. Pinto-de-Sousa
{"title":"为时不晚71 岁时诊断出林奇综合征","authors":"Margarida Dupont, G. Guidi, N. Tenreiro, Rita A. Marques, João A. Pinto-de-Sousa","doi":"10.18203/2349-2902.isj20240580","DOIUrl":null,"url":null,"abstract":"Lynch syndrome is an autosomal dominantly inherited disease characterized by a mutation in one of the deoxyribonucleic acid mismatch repair genes. In consequence of this defect, patients have higher risk of developing early colorectal and endometrial cancer (among others types of cancer). This syndrome accounts for 3% of all colorectal cancers and 10% to 19% of colorectal cancers diagnosed before the age of 50. Total abdominal colectomy is the best treatment for patients with Lynch syndrome who develop colorectal cancer.","PeriodicalId":14372,"journal":{"name":"International Surgery Journal","volume":"18 4","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Never too late: Lynch syndrome diagnosed at the age of 71\",\"authors\":\"Margarida Dupont, G. Guidi, N. Tenreiro, Rita A. Marques, João A. Pinto-de-Sousa\",\"doi\":\"10.18203/2349-2902.isj20240580\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Lynch syndrome is an autosomal dominantly inherited disease characterized by a mutation in one of the deoxyribonucleic acid mismatch repair genes. In consequence of this defect, patients have higher risk of developing early colorectal and endometrial cancer (among others types of cancer). This syndrome accounts for 3% of all colorectal cancers and 10% to 19% of colorectal cancers diagnosed before the age of 50. Total abdominal colectomy is the best treatment for patients with Lynch syndrome who develop colorectal cancer.\",\"PeriodicalId\":14372,\"journal\":{\"name\":\"International Surgery Journal\",\"volume\":\"18 4\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-02-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Surgery Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.18203/2349-2902.isj20240580\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Surgery Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18203/2349-2902.isj20240580","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Never too late: Lynch syndrome diagnosed at the age of 71
Lynch syndrome is an autosomal dominantly inherited disease characterized by a mutation in one of the deoxyribonucleic acid mismatch repair genes. In consequence of this defect, patients have higher risk of developing early colorectal and endometrial cancer (among others types of cancer). This syndrome accounts for 3% of all colorectal cancers and 10% to 19% of colorectal cancers diagnosed before the age of 50. Total abdominal colectomy is the best treatment for patients with Lynch syndrome who develop colorectal cancer.