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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 317 - 322 (6page)
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Hereditary non-polyposis Colorectal Cancer (HNPCC) is an autosomal dominant inheritance syndrome. HNPCC is the most common hereditary variant of colorectal cancer (CRC), which accounts for 2-5% CRCs, mainly due to hMLH1 and hMSH2mutations that impair DNA repair functions. Our study aimed to identify the patterns of hMSH2 and hMLH1 mutations in Chinese HNPCC patients. Ninety-eight unrelated families from China meeting Amsterdam or Bethesda criteria were included in our study. Germline mutations in MLH1 and MSH2 genes,located in the exons and the splice-site junctions, were screened in the 98 probands by direct sequencing. Eleven mutations were found in ten patients (11%), with six in MLH1(54.5%) and five in MSH2 (45.5%) genes. One patient had mutations in both MLH1 and MSH2 genes. Three novel mutations in MLH1 gene (c.157_160delGAGG, c.2157dupT and c.-64G＞T) were found for the first time, and one suspected hotspot in MSH2 (c.1168C＞T) was revealed. [BMB reports 2011; 44(5): 317-322]
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참고문헌 (23)
참고문헌 신청
[학
Banno, K / 2004 / Met688Ile and Leu390Phe of the MSH2 gene are not functional mutations, but polymorphisms in Japanese individuals / Cancer Genet. Cytogenet 155 : 92 ~
Cai, S. J / 2003 / Clinical characteristics and diagnosis of patients with hereditary nonpolyposis colorectal cancer / World J. Gastroenterol 9 : 284 ~ 287
Chen, C. H / 2001 / Hereditary nonpolyposis colorectal cancer with gynecologic malignancies: report of two families in Taiwan / J. Formos. Med. Assoc 100 : 269 ~ 273
Chew, M. H / 2008 / Phenotypic characteristics of hereditary non-polyposis colorectal cancer by the Amsterdam criteria: an Asian perspective / ANZ J. Surg 78 : 556 ~ 560
Banno, K / 2004 / Met688Ile and Leu390Phe of the MSH2 gene are not functional mutations, but polymorphisms in Japanese individuals / Cancer Genet. Cytogenet 155 : 92 ~
Cai, S. J / 2003 / Clinical characteristics and diagnosis of patients with hereditary nonpolyposis colorectal cancer / World J. Gastroenterol 9 : 284 ~ 287
Chen, C. H / 2001 / Hereditary nonpolyposis colorectal cancer with gynecologic malignancies: report of two families in Taiwan / J. Formos. Med. Assoc 100 : 269 ~ 273
Chew, M. H / 2008 / Phenotypic characteristics of hereditary non-polyposis colorectal cancer by the Amsterdam criteria: an Asian perspective / ANZ J. Surg 78 : 556 ~ 560
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