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 journalArticle

21 Citations (Scopus)

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).

Original languageEnglish
Number of pages1
JournalHuman mutation
Volume26
Issue number3
DOIs
Publication statusPublished - 2005 Sep

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APC Genes
Adenomatous Polyposis Coli
Mutation
Germ-Line Mutation
Genetic Association Studies
Aggressive Fibromatosis
Frameshift Mutation
Inborn Genetic Diseases
Nonsense Codon
Codon
Genotype

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Kim, D. W., Kim, I. J., Kang, H. C., Park, H. W., Shin, Y., Park, J. H., ... Park, J. G. (2005). Mutation spectrum of the APC gene in 83 Korean FAP families. Human mutation, 26(3). https://doi.org/10.1002/humu.9360
Kim, Duck Woo ; Kim, Il Jin ; Kang, Hio Chung ; Park, Hye Won ; Shin, Yong ; Park, Jae Hyun ; Jang, Sang Geun ; Yoo, Byong Chul ; Lee, Min Ro ; Hong, Chang Won ; Park, Kyu Joo ; Oh, Nahm Gun ; Kim, Nam Kyu ; Sung, Moo Kyung ; Lee, Bong Wha ; Kim, Young Jin ; Lee, Hyucksang ; Park, Jae Gahb. / Mutation spectrum of the APC gene in 83 Korean FAP families. In: Human mutation. 2005 ; Vol. 26, No. 3.
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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).",
author = "Kim, {Duck Woo} and Kim, {Il Jin} and Kang, {Hio Chung} and Park, {Hye Won} and Yong Shin and Park, {Jae Hyun} and Jang, {Sang Geun} and Yoo, {Byong Chul} and Lee, {Min Ro} and Hong, {Chang Won} and Park, {Kyu Joo} and Oh, {Nahm Gun} and Kim, {Nam Kyu} and Sung, {Moo Kyung} and Lee, {Bong Wha} and Kim, {Young Jin} and Hyucksang Lee and Park, {Jae Gahb}",
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Kim, DW, Kim, IJ, Kang, HC, Park, HW, Shin, Y, Park, JH, Jang, SG, Yoo, BC, Lee, MR, Hong, CW, Park, KJ, Oh, NG, Kim, NK, Sung, MK, Lee, BW, Kim, YJ, Lee, H & Park, JG 2005, 'Mutation spectrum of the APC gene in 83 Korean FAP families.', Human mutation, vol. 26, no. 3. https://doi.org/10.1002/humu.9360

Mutation spectrum of the APC gene in 83 Korean FAP families. / Kim, Duck Woo; Kim, Il Jin; Kang, Hio Chung; Park, Hye Won; Shin, Yong; Park, Jae Hyun; Jang, Sang Geun; Yoo, Byong Chul; Lee, Min Ro; Hong, Chang Won; Park, Kyu Joo; Oh, Nahm Gun; Kim, Nam Kyu; Sung, Moo Kyung; Lee, Bong Wha; Kim, Young Jin; Lee, Hyucksang; Park, Jae Gahb.

In: Human mutation, Vol. 26, No. 3, 09.2005.

Research output: Contribution to journalArticle

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N2 - 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).

AB - 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).

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Kim DW, Kim IJ, Kang HC, Park HW, Shin Y, Park JH et al. Mutation spectrum of the APC gene in 83 Korean FAP families. Human mutation. 2005 Sep;26(3). https://doi.org/10.1002/humu.9360