International Journal of Colorectal Disease

, Volume 22, Issue 10, pp 1173–1178

Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas

  • Duck-Woo Kim
  • Il-Jin Kim
  • Hio-Chung Kang
  • Sang-Geun Jang
  • Kun Kim
  • Hyun-Ju Yoon
  • Sun-A Ahn
  • Song Yee Han
  • Seung-Hyun Hong
  • Jung-A Hwang
  • Dae Kyung Sohn
  • Seung-Yong Jeong
  • Hyo Seong Choi
  • Chang Won Hong
  • Seok-Byung Lim
  • Jae-Gahb Park
Original Article

DOI: 10.1007/s00384-007-0289-8

Cite this article as:
Kim, D., Kim, I., Kang, H. et al. Int J Colorectal Dis (2007) 22: 1173. doi:10.1007/s00384-007-0289-8

Abstract

Background

Most investigations on MutY human homolog (MYH)-associated polyposis (MAP) have been conducted in Western countries. Limited data on MAP in Asia are currently available. The present study investigated germline mutations of the MYH gene among patients with 10 to 99 adenomatous colorectal polyps and familial adenomatous polyposis (FAP) without adenomatous polyposis coli (APC) germline mutations in Korea.

Materials and methods

The study population included 46 patients with 10 to 99 adenomatous polyps in the colorectum and 16 FAP patients with no identified APC germline mutations. Subjects were screened for MYH germline mutations, and we additionally screened for MYH mutations in 96 normal control individuals.

Results

Two of 46 (4.3%) patients with multiple polyps displayed heterozygous biallelic germline mutations of the MYH gene. A 39-year-old male patient with biallelic MYH mutations (p.G272E and p.A359V) received total proctocolectomy for rectal cancer and 36 colorectal polyps. A 58-year-old female patient with biallelic MYH mutations (p.Q253X and p.Q440P) received right hemicolectomy for ascending colon cancer and 16 colonic polyps. The frequency of biallelic MYH mutation in 14 of 46 multiple-polyp patients, who had 15 to 99 polyps, was 14.3% (2 of 14). No biallelic MYH mutations were detected in the 32 patients with 10 to 14 colorectal polyps, 16 FAP patients, or 96 normal controls.

Conclusion

We identified biallelic MYH germline mutations in 2 of 14 (14.3%) Korean patients with 15 to 99 colorectal polyps. In this study, there was no Y165C or G382D hot-spot mutation, which had been reported most frequently in previous studies.

Keywords

Adenomatous polyposis coli (APC)Colorectal adenomaFamilial adenomatous polyposis (FAP)MutY human homolog (MYH)MutYH-associated polyposis (MAP)

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Duck-Woo Kim
    • 1
    • 2
  • Il-Jin Kim
    • 1
  • Hio-Chung Kang
    • 1
    • 3
  • Sang-Geun Jang
    • 1
  • Kun Kim
    • 1
  • Hyun-Ju Yoon
    • 1
  • Sun-A Ahn
    • 1
  • Song Yee Han
    • 1
  • Seung-Hyun Hong
    • 1
    • 3
  • Jung-A Hwang
    • 1
    • 3
  • Dae Kyung Sohn
    • 3
  • Seung-Yong Jeong
    • 3
  • Hyo Seong Choi
    • 3
  • Chang Won Hong
    • 3
  • Seok-Byung Lim
    • 3
  • Jae-Gahb Park
    • 1
    • 2
  1. 1.Korean Hereditary Tumor Registry, Cancer Research Institute and Cancer Research CenterSeoul National UniversitySeoulSouth Korea
  2. 2.Department of SurgerySeoul National University College of MedicineSeoulSouth Korea
  3. 3.Center for Colorectal Cancer, Research Institute and HospitalNational Cancer CenterGoyangSouth Korea