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Science. 1994 Mar 18;263(5153):1559-60.
Mutation of a mutL homolog in hereditary colon cancer.
Papadopoulos N,
Nicolaides NC,
Wei YF,
Ruben SM,
Carter KC,
Rosen CA,
Haseltine WA,
Fleischmann RD,
Fraser CM,
Adams MD, et al.
Johns Hopkins Oncology Center, Baltimore, MD 21231.
Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in a mutS-related mismatch repair gene. A search of a large database of expressed sequence tags derived from random complementary DNA clones revealed three additional human mismatch repair genes, all related to the bacterial mutL gene. One of these genes (hMLH1) resides on chromosome 3p21, within 1 centimorgan of markers previously linked to cancer susceptibility in HNPCC kindreds. Mutations of hMLH1 that would disrupt the gene product were identified in such kindreds, demonstrating that this gene is responsible for the disease. These results suggest that defects in any of several mismatch repair genes can cause HNPCC.
PMID: 8128251 [PubMed - indexed for MEDLINE]
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Cited by over 100 PubMed Central articles
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The genomics of colorectal cancer: state of the art.
Beggs AD, Hodgson SV.
Curr Genomics. 2008 Mar; 9(1):1-10.
[Curr Genomics. 2008]
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Mutation rates of TGFBR2 and ACVR2 coding microsatellites in human cells with defective DNA mismatch repair.
Chung H, Young DJ, Lopez CG, Le TA, Lee JK, Ream-Robinson D, Huang SC, Carethers JM.
PLoS One. 2008; 3(10):e3463. Epub 2008 Oct 21.
[PLoS One. 2008]
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Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers.
Barber TD, McManus K, Yuen KW, Reis M, Parmigiani G, Shen D, Barrett I, Nouhi Y, Spencer F, Markowitz S, et al.
Proc Natl Acad Sci U S A. 2008 Mar 4; 105(9):3443-8. Epub 2008 Feb 25.
[Proc Natl Acad Sci U S A. 2008]
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