title: Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: Korean Hereditary Tumor Registry, Cancer Research Institute and Cancer Research Center, Seoul National University, Chongno-Gu, Seoul, South Korea.
authors: Duck-Woo
authors: DW
authors: Kim
authors: Il-Jin
authors: IJ
authors: Kim
authors: Hio-Chung
authors: HC
authors: Kang
authors: Sang-Geun
authors: SG
authors: Jang
authors: Kun
authors: K
authors: Kim
authors: Hyun-Ju
authors: HJ
authors: Yoon
authors: Sun-A
authors: SA
authors: Ahn
authors: Song Yee
authors: SY
authors: Han
authors: Seung-Hyun
authors: SH
authors: Hong
authors: Jung-A
authors: JA
authors: Hwang
authors: Dae Kyung
authors: DK
authors: Sohn
authors: Seung-Yong
authors: SY
authors: Jeong
authors: Hyo Seong
authors: HS
authors: Choi
authors: Chang Won
authors: CW
authors: Hong
authors: Seok-Byung
authors: SB
authors: Lim
authors: Jae-Gahb
authors: JG
authors: Park
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D001483:Base Sequence; D003111:Colonic Polyps / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase
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