Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients

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• 作者：Keiko Taki ; Yuri Sato ; Sachio Nomura ; Yuumi Ashihara ; Mizuho Kita…
• 关键词：MAP ; MUTYH ; associated polyposis ; Adenomatous polyposis ; MUTYH ; FAP ; Colorectal polyposis
• 刊名：Familial Cancer
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：15
• 期：2
• 页码：261-265
• 全文大小：550 KB
• 参考文献：1.Miyaki M, Iijima T, Yamaguchi T, Hishima T, Tamura K, Utsunomiya J, Mori T (2005) Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. Mutat Res 578:430–433CrossRef PubMed
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• 作者单位：Keiko Taki (1) (2)
  Yuri Sato (1)
  Sachio Nomura (1) (3)
  Yuumi Ashihara (1)
  Mizuho Kita (1)
  Ikufumi Tajima (4)
  Kokichi Sugano (5)
  Masami Arai (1)
  
  1. Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan
  2. Division of Bioresources, Chemical Resources Laboratory, Tokyo Institute of Technology, Yokohama, Japan
  3. Department of Clinical Research, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, Japan
  4. Tajima Hospital, Agatsuma-gun, Gunma, Japan
  5. Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  Human Genetics
  Epidemiology
  
• 出版者：Springer Netherlands
• ISSN：1573-7292

文摘

Germline MUTYH mutations were investigated in 14 Japanese colorectal polyposis patients without germ line adenomatous polyposis coli (APC) gene mutations. Three patients had a heterozygous IVS10-2A>G MUTYH mutation. The onset of MUTYH-associated polyposis (MAP) occurs later than that of familial adenomatous polyposis with germline APC mutation. Thus, we compared the carrier frequency of MUTYH IVS10-2A>G heterozygote in the APC mutation negative cases with that in 115 controls over 70 years of age who showed no apparent clinical manifestations of cancer and claimed that they had no history of cancer at the time of enrollment. The frequency of IVS10-2A>G heterozygote in APC germline mutation negative polyposis patients was significantly higher than control subject (p = 0.012, Chi square test). Although the sample size is still too small to conclude, the IVS10-2A>G MUTYH heterozygote might add to the risk of developing germline APC mutation negative polyposis.