caa a22 4500 445330724 CHVBK 20180317142736.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s10689-010-9363-4 doi (NATIONALLICENCE)springer-10.1007/s10689-010-9363-4 Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype [Elektronische Daten] [Sung-Hee Han, Jae-Song Ryu, Young-Jin Kim, Han-Ik Cho, Young-Ho Yang, Kyoung-Ryul Lee] Germline mutations within the adenomatous polyposis coli (APC) gene are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date more than 900 different APC germline mutations have been characterized worldwide demonstrating allelic heterogeneity. Here, we analyzed the APC gene in 23 DNA samples from unrelated Korean patients with the typical clinical symptoms of FAP by denaturing high-performance liquid chromatography (DHPLC) and direct sequencing. We identified 20 different APC sequence variants, including 9 truncating mutations, 1 missense mutation, 7 polymorphisms, and 3 intronic variants. Nine different truncating mutations, including four novel mutations (p.Leu180TyrfsX5, p.Gly567X, p.Ser1275PhefsX13, p.Leu1280CysfsX8), were detected. The most common mutation was a 5bp deletion at codon 1,309 (p.Glu1309AspfsX4) as in Western studies. The next most common mutation was p.Ser1275PhefsX13 with a severe form of FAP with many extracolonic manifestations; this was a novel mutation identified in our study and may represent the second hot-spot mutation in a Korean population. Novel mutations are of particular interest because of the unusual phenotypic features shown by patients. In present study, we found new positions associated with thyroid cancer (codon 180) and desmoid tumor (codon 1,280), which have not been previously reported. The results of this molecular study have revealed the existence of novel pathogenic mutations in Korean patients with FAP. In addition to allowing phenotype-genotype correlations to be performed, these results are currently being used in genetic counseling and in patient care. Springer Science+Business Media B.V., 2010 APC mutations nationallicence Familial adenomatous polyposis (FAP) nationallicence Genotype-phenotype correlation nationallicence Korean patients nationallicence Han Sung-Hee Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut Ryu Jae-Song Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut Kim Young-Jin Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut Cho Han-Ik Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut Yang Young-Ho Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut Lee Kyoung-Ryul Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut Familial Cancer Springer Netherlands 10/1(2011-03-01), 21-26 1389-9600 10:1<21 2011 10 10689 https://doi.org/10.1007/s10689-010-9363-4 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-010-9363-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Han Sung-Hee Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut NATIONALLICENCE 700 1- Ryu Jae-Song Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut NATIONALLICENCE 700 1- Kim Young-Jin Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut NATIONALLICENCE 700 1- Cho Han-Ik Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut NATIONALLICENCE 700 1- Yang Young-Ho Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut NATIONALLICENCE 700 1- Lee Kyoung-Ryul Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7-14, Dongbingo-dong, Yongsan-gu, Seoul, Korea aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/1(2011-03-01), 21-26 1389-9600 10:1<21 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer