title: Mutation spectrum of the APC gene in 83 Korean FAP families.
abstract: Familial adenomatous polyposis (FAP) is a clinically well-defined hereditary disease caused by germline mutations in the adenomatous polyposis coli (APC) gene. FAP is characterized by polyposis in the large bowel and variable extracolonic manifestations. With an increase of reported APC germline mutations, many reports have investigated genotype-phenotype correlations in FAP patients. Here, we analyzed the APC gene for germline mutations in 83 unrelated Korean FAP patients and investigated genotype-phenotype correlations. We identified germline APC mutations in 59 (71%) of the cases, including 34 frameshift mutations, 19 nonsense mutations, and six splice site mutations. Among 59 patients with the identified germline mutation of the APC gene, 37 had been reported previously and were included in the genotype-phenotype analysis. In the other 22 patients, we identified seven novel mutations: c.1438C>T, c.2232_2233dupCT, c.3426delT, c.3739_3769del31, c.3931_3935delATTGG, c.4332dupA, and c.4722_4725delACTA. Desmoid tumors were identified in six of the examined FAP patients, five of whom had APC germline mutations; these mutations involved codons 849, 864, 1309, 1444 and 1464, respectively (c.2547_2548delTA, c.2592_2593insCT, c.3927_3931delAAAGA, c.4332dupA and c.4391-4394delAGAG). Four of the included FAP patients had papillary thyroid cancers; all were female and had germline APC mutations (c.1863_1865delTTAincCT, c.2805C>A, c.3183_3187delACAAA and c.3927_3931delAAAGA).
authors.affiliation: Research Institute and Hospital, National Cancer Center, Goyang, Gyeonggi, Korea.
authors.forename: Duck-Woo
authors.initials: DW
authors.lastname: Kim
authors.forename: Il-Jin
authors.initials: IJ
authors.lastname: Kim
authors.forename: Hio Chung
authors.initials: HC
authors.lastname: Kang
authors.forename: Hye-Won
authors.initials: HW
authors.lastname: Park
authors.forename: Yong
authors.initials: Y
authors.lastname: Shin
authors.forename: Jae-Hyun
authors.initials: JH
authors.lastname: Park
authors.forename: Sang-Geun
authors.initials: SG
authors.lastname: Jang
authors.forename: Byong Chul
authors.initials: BC
authors.lastname: Yoo
authors.forename: Min Ro
authors.initials: MR
authors.lastname: Lee
authors.forename: Chang Won
authors.initials: CW
authors.lastname: Hong
authors.forename: Kyu Joo
authors.initials: KJ
authors.lastname: Park
authors.forename: Nahm-Gun
authors.initials: NG
authors.lastname: Oh
authors.forename: Nam Kyu
authors.initials: NK
authors.lastname: Kim
authors.forename: Moo Kyung
authors.initials: MK
authors.lastname: Sung
authors.forename: Bong Wha
authors.initials: BW
authors.lastname: Lee
authors.forename: Young Jin
authors.initials: YJ
authors.lastname: Kim
authors.forename: Hyucksang
authors.initials: H
authors.lastname: Lee
authors.forename: Jae-Gahb
authors.initials: JG
authors.lastname: Park
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000328:Adult; D003062:Codon; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D017491:Genes, APC; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007723:Korea; D008297:Male; D008957:Models, Genetic; D009154:Mutation
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D003062:Codon