Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea

Hansoo Kim, Hyo Jong Kim, Sung Gil Chi, Sang Kil Lee, Gwang Ro Joo, Seok Ho Dong, Byung Ho Kim, Young Woon Chang, Jung Il Lee, Rin Chang

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Aim: Recently, germ-line mutation in the base excision repair gene MYH has been identified to cause a novel autosomal recessive form of familial adenomatous polyposis (FAP). Interestingly, a striking evidence for MYH mutations within different ethnic groups has been demonstrated. In this study, we screened 30 patients with multiple adenomatous polyps for MYH mutations to assess its prevalence and ethnic specificity in Korea. Methods: Thirty patients (21 men and 9 women; mean age 62.3 years) with multiple adenomatous polyps were examined for MYH mutations. The mean number of adenomas per patient was 10.0. Sixteen exonic regions and their intronic sequences were amplified by PCR and subjected to SSCP and DNA sequencing analyses. Results: None of the patients was identified to carry any truncating or sequence alterations in MYH. Our screening for the mutational regions, which were recognized from Caucasian patients or affected Indian families, also failed to detect sequence substitutions. Conclusion: Mutation in MYH may be rarely involved in the pathogenesis of multiple sporadic colorectal adenomas in Korean population, although a large-scale analysis will be required to clarify the presence of specific MYH variants in a subset of patients and their role in the predisposition of multiple colorectal adenomas in Korean population.

Original languageEnglish
Pages (from-to)951-955
Number of pages5
JournalWorld Journal of Gastroenterology
Volume12
Issue number6
DOIs
Publication statusPublished - 2006 Feb 14

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Adenomatous Polyps
Korea
Mutation
Adenoma
Single-Stranded Conformational Polymorphism
Adenomatous Polyposis Coli
Germ-Line Mutation
DNA Sequence Analysis
Ethnic Groups
DNA Repair
Population
Polymerase Chain Reaction
Genes

All Science Journal Classification (ASJC) codes

  • Gastroenterology

Cite this

Kim, Hansoo ; Kim, Hyo Jong ; Chi, Sung Gil ; Lee, Sang Kil ; Joo, Gwang Ro ; Dong, Seok Ho ; Kim, Byung Ho ; Chang, Young Woon ; Lee, Jung Il ; Chang, Rin. / Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea. In: World Journal of Gastroenterology. 2006 ; Vol. 12, No. 6. pp. 951-955.
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abstract = "Aim: Recently, germ-line mutation in the base excision repair gene MYH has been identified to cause a novel autosomal recessive form of familial adenomatous polyposis (FAP). Interestingly, a striking evidence for MYH mutations within different ethnic groups has been demonstrated. In this study, we screened 30 patients with multiple adenomatous polyps for MYH mutations to assess its prevalence and ethnic specificity in Korea. Methods: Thirty patients (21 men and 9 women; mean age 62.3 years) with multiple adenomatous polyps were examined for MYH mutations. The mean number of adenomas per patient was 10.0. Sixteen exonic regions and their intronic sequences were amplified by PCR and subjected to SSCP and DNA sequencing analyses. Results: None of the patients was identified to carry any truncating or sequence alterations in MYH. Our screening for the mutational regions, which were recognized from Caucasian patients or affected Indian families, also failed to detect sequence substitutions. Conclusion: Mutation in MYH may be rarely involved in the pathogenesis of multiple sporadic colorectal adenomas in Korean population, although a large-scale analysis will be required to clarify the presence of specific MYH variants in a subset of patients and their role in the predisposition of multiple colorectal adenomas in Korean population.",
author = "Hansoo Kim and Kim, {Hyo Jong} and Chi, {Sung Gil} and Lee, {Sang Kil} and Joo, {Gwang Ro} and Dong, {Seok Ho} and Kim, {Byung Ho} and Chang, {Young Woon} and Lee, {Jung Il} and Rin Chang",
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Kim, H, Kim, HJ, Chi, SG, Lee, SK, Joo, GR, Dong, SH, Kim, BH, Chang, YW, Lee, JI & Chang, R 2006, 'Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea', World Journal of Gastroenterology, vol. 12, no. 6, pp. 951-955. https://doi.org/10.3748/wjg.v12.i6.951

Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea. / Kim, Hansoo; Kim, Hyo Jong; Chi, Sung Gil; Lee, Sang Kil; Joo, Gwang Ro; Dong, Seok Ho; Kim, Byung Ho; Chang, Young Woon; Lee, Jung Il; Chang, Rin.

In: World Journal of Gastroenterology, Vol. 12, No. 6, 14.02.2006, p. 951-955.

Research output: Contribution to journalArticle

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T1 - Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea

AU - Kim, Hansoo

AU - Kim, Hyo Jong

AU - Chi, Sung Gil

AU - Lee, Sang Kil

AU - Joo, Gwang Ro

AU - Dong, Seok Ho

AU - Kim, Byung Ho

AU - Chang, Young Woon

AU - Lee, Jung Il

AU - Chang, Rin

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N2 - Aim: Recently, germ-line mutation in the base excision repair gene MYH has been identified to cause a novel autosomal recessive form of familial adenomatous polyposis (FAP). Interestingly, a striking evidence for MYH mutations within different ethnic groups has been demonstrated. In this study, we screened 30 patients with multiple adenomatous polyps for MYH mutations to assess its prevalence and ethnic specificity in Korea. Methods: Thirty patients (21 men and 9 women; mean age 62.3 years) with multiple adenomatous polyps were examined for MYH mutations. The mean number of adenomas per patient was 10.0. Sixteen exonic regions and their intronic sequences were amplified by PCR and subjected to SSCP and DNA sequencing analyses. Results: None of the patients was identified to carry any truncating or sequence alterations in MYH. Our screening for the mutational regions, which were recognized from Caucasian patients or affected Indian families, also failed to detect sequence substitutions. Conclusion: Mutation in MYH may be rarely involved in the pathogenesis of multiple sporadic colorectal adenomas in Korean population, although a large-scale analysis will be required to clarify the presence of specific MYH variants in a subset of patients and their role in the predisposition of multiple colorectal adenomas in Korean population.

AB - Aim: Recently, germ-line mutation in the base excision repair gene MYH has been identified to cause a novel autosomal recessive form of familial adenomatous polyposis (FAP). Interestingly, a striking evidence for MYH mutations within different ethnic groups has been demonstrated. In this study, we screened 30 patients with multiple adenomatous polyps for MYH mutations to assess its prevalence and ethnic specificity in Korea. Methods: Thirty patients (21 men and 9 women; mean age 62.3 years) with multiple adenomatous polyps were examined for MYH mutations. The mean number of adenomas per patient was 10.0. Sixteen exonic regions and their intronic sequences were amplified by PCR and subjected to SSCP and DNA sequencing analyses. Results: None of the patients was identified to carry any truncating or sequence alterations in MYH. Our screening for the mutational regions, which were recognized from Caucasian patients or affected Indian families, also failed to detect sequence substitutions. Conclusion: Mutation in MYH may be rarely involved in the pathogenesis of multiple sporadic colorectal adenomas in Korean population, although a large-scale analysis will be required to clarify the presence of specific MYH variants in a subset of patients and their role in the predisposition of multiple colorectal adenomas in Korean population.

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