자궁내막암과 대장암이 발생한 린치증후군 2형 1예
One case of Lynch type II syndrome
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유전성 비용종성 대장직장암은 Lynch II증후군으로 알려진 상염색체 우성의 유전방식으로 유전되는 질환으로 자궁내막암, 난소암, 위암, 소장암, 담도암, 비뇨기계암, 뇌암등이 동반되어 발생할 수 있다. 그 중 자궁내막암이 가장 높은 발생 비율을 보이고 있다. 이 질환은 DAN복제 이상 복구유전자 (mismatched repair gene) 중 하나에 돌연변이 때문에 발생하는 것으로 알려져 있다. 저자들은 유전성 비용종성 대장직장암 진단기준에 맞는 증례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.
Abstract
Lynch syndrome is also called Hereditary nonpolyposis colorectal cancer (HNPCC). It is characterized by a risk of colorectal cancer and other cancers of the endometrium, ovary, stomach, small intestine etc. The increased risk is due to inherited mutations that impaired DNA mismatch repair. Two to three percentage of colon cancer is caused by Lynch syndrome. A family history of colon cancer occurs at a young age. We experienced one case of Lynch syndrome who had had stomach cancer, endometrial cancer and colon cancer recently. Hence we report this case with a brief review of literature.
참고문헌 (10)
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