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Mutation spectrum of the APC gene in 83 Korean FAP families.
Hum Mutat. 2005 Sep; 26(3):281.HM

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+Show Affiliations

Research Institute and Hospital, National Cancer Center, Goyang, Gyeonggi, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16088911

Citation

Kim, Duck-Woo, et al. "Mutation Spectrum of the APC Gene in 83 Korean FAP Families." Human Mutation, vol. 26, no. 3, 2005, p. 281.
Kim DW, Kim IJ, Kang HC, et al. Mutation spectrum of the APC gene in 83 Korean FAP families. Hum Mutat. 2005;26(3):281.
Kim, D. W., Kim, I. J., Kang, H. C., Park, H. W., Shin, Y., Park, J. H., Jang, S. G., Yoo, B. C., Lee, M. R., Hong, C. W., Park, K. J., Oh, N. G., Kim, N. K., Sung, M. K., Lee, B. W., Kim, Y. J., Lee, H., & Park, J. G. (2005). Mutation spectrum of the APC gene in 83 Korean FAP families. Human Mutation, 26(3), 281.
Kim DW, et al. Mutation Spectrum of the APC Gene in 83 Korean FAP Families. Hum Mutat. 2005;26(3):281. PubMed PMID: 16088911.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation spectrum of the APC gene in 83 Korean FAP families. AU - Kim,Duck-Woo, AU - Kim,Il-Jin, AU - Kang,Hio Chung, AU - Park,Hye-Won, AU - Shin,Yong, AU - Park,Jae-Hyun, AU - Jang,Sang-Geun, AU - Yoo,Byong Chul, AU - Lee,Min Ro, AU - Hong,Chang Won, AU - Park,Kyu Joo, AU - Oh,Nahm-Gun, AU - Kim,Nam Kyu, AU - Sung,Moo Kyung, AU - Lee,Bong Wha, AU - Kim,Young Jin, AU - Lee,Hyucksang, AU - Park,Jae-Gahb, PY - 2005/8/10/pubmed PY - 2006/7/29/medline PY - 2005/8/10/entrez SP - 281 EP - 281 JF - Human mutation JO - Hum. Mutat. VL - 26 IS - 3 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). SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/16088911/Mutation_spectrum_of_the_APC_gene_in_83_Korean_FAP_families_ L2 - https://doi.org/10.1002/humu.9360 DB - PRIME DP - Unbound Medicine ER -