Mutation spectrum of the APC gene in 83 Korean FAP families.

Duck Woo Kim, Il Jin Kim, Hio Chung Kang, Hye Won Park, Yong Shin, Jae Hyun Park, Sang Geun Jang, Byong Chul Yoo, Min Ro Lee, Chang Won Hong, Kyu Joo Park, Nahm Gun Oh, Nam Kyu Kim, Moo Kyung Sung, Bong Wha Lee, Young Jin Kim, Hyucksang Lee, Jae Gahb Park

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)


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).

Original languageEnglish
Pages (from-to)281
Number of pages1
JournalHuman mutation
Issue number3
Publication statusPublished - 2005

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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