Characteristics of the Germline MEN1 Mutations in Korea: A Literature Review

• 영문명: Characteristics of the Germline MEN1 Mutations in Korea: A Literature Review
• 발행기관: 대한내분비외과학회
• 저자명: Seong Cheol Lee Jun Won Min You-Me Kim1 Myung-Chul Chang
• 간행물 정보: 『The Koreran journal of Endocrine Surgery』14권1호, 7~11쪽, 전체 5쪽
• 주제분류: 의약학 > 면역학
• 파일형태: PDF
• 발행일자: 2014.03.30

영문 초록

Purpose: Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant disease caused by the MEN1 germline mutation. We reviewed previous reports in order to sum-marize the characteristics of germline MEN1 mutation in Korea.Methods: We retrieved the relevant literature regarding MEN1 germline mutation in Korea using the Pubmed (http://www.pubmed.org/) and Koreamed (http://www.koreamed.org/) databases from 2000 to 2012. We evaluated the pedigree of the patients in order to exclude the same, repeated families. We collected all data on the types of mutations and clinical characteristics.Results: There were nine studies with 12 cases of MEN1 mutations in Korea. Two cases were sporadic MEN-1. C.196_200dupAGCCC was reported in three families. There were six cases of frameshift mutation, three cases of missense mutation, two cases of nonsense mutation, and one case of splice site mutation. Five mutations were novel mutations not previously reported.Conclusion: We summarized the characteristics of germline MEN1 mutations in Korea. Genetic testing of MEN1 is rare in Korea; however, it will be useful in preclinical diagnosis and genetic counseling.