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- 저자 : You-Me Kim1 (검색결과 1 건)
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Characteristics of the Germline <em>MEN1</em> Mutations in Korea: A Literature Review
Seong Cheol Lee,Jun Won Min,You-Me Kim1,Myung-Chul Chang 대한갑상선-내분비외과학회 2014 The Koreran journal of Endocrine Surgery Vol.14 No.1
Purpose: Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant disease caused by the <em>MEN1</em> germline mutation. We reviewed previous reports in order to sum-marize the characteristics of germline <em>MEN1</em> mutation in Korea.Methods: We retrieved the relevant literature regarding <em>MEN1</em> germline mutation in Korea using the Pubmed (<a href="http://www.pubmed.org/">http://www.pubmed.org/</a>) and Koreamed (<a href="http://www.koreamed.org/">http://www.koreamed.org/</a>) 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 <em>MEN1</em> 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 <em>MEN1</em> mutations in Korea. Genetic testing of <em>MEN1</em> is rare in Korea; however, it will be useful in preclinical diagnosis and genetic counseling.
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