Never too late: Lynch syndrome diagnosed at the age of 71

Margarida Dupont, G. Guidi, N. Tenreiro, Rita A. Marques, João A. Pinto-de-Sousa
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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.
为时不晚71 岁时诊断出林奇综合征
林奇综合征是一种常染色体显性遗传疾病,其特征是脱氧核糖核酸错配修复基因之一发生突变。由于这种缺陷,患者罹患早期结直肠癌和子宫内膜癌(以及其他类型的癌症)的风险较高。在所有结直肠癌患者中,该综合征患者占 3%,在 50 岁之前确诊的结直肠癌患者中,该综合征患者占 10%至 19%。全腹结肠切除术是治疗林奇综合征结直肠癌患者的最佳方法。
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