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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 693 - 697 (5page)
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초록· 키워드
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Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterized by predisposition to early-onset cancers. HNPCC is caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6, PMS1, and PMS2. We genotyped the MLH1 and MSH2 genes in patients suffering from Lynch syndrome and in 11 unrelated patients who were diagnosed with colorectal cancer and had subsequently undergone surgery.
Five Lynch syndrome patients carried germline mutations in MLH1 or MSH2. Two of these were identified as known mutations in MLH1: deletion of exon 10 and a point mutation (V384D). The remaining three patients exhibited novel mutations:a duplication (937_942dupGAAGTT) in MLH1; deletion of exons 8, 9, and 10; and a point mutation in MLH1 (F396I)combined with multiple missense mutations in MSH2 (D295G,K808E, Q855P, and I884T). The findings underline the importance of efficient pre-screening of conspicuous cases.
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참고문헌 (21)
참고문헌 신청
Aaltonen, L. A / 1998 / Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease / N. Engl. J. Med. 338 : 1481 ~ 148
Aaltonen, L. A. / 1993 / Clues to the pathogenesis of familial colorectal cancer / Science 260 : 812 ~ 816
Bocker, T. / 2000 / Colorectal carcinomas with high microsatellite instability: defining a distinct immunologic and molecular entity with respect to prognostic markers / Hum
Bronner, C. E. / 1994 / Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer / Nature 368 : 258 ~ 261
Cartegni, L. / 2002 / Listening to silence and understanding nonsense: exonic mutations that affect splicing / Nat. Rev. Genet. 3 : 285 ~ 298
Aaltonen, L. A. / 1993 / Clues to the pathogenesis of familial colorectal cancer / Science 260 : 812 ~ 816
Bocker, T. / 2000 / Colorectal carcinomas with high microsatellite instability: defining a distinct immunologic and molecular entity with respect to prognostic markers / Hum
Bronner, C. E. / 1994 / Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer / Nature 368 : 258 ~ 261
Cartegni, L. / 2002 / Listening to silence and understanding nonsense: exonic mutations that affect splicing / Nat. Rev. Genet. 3 : 285 ~ 298
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