doi: 10.1126/science.8128251.
Mutation of a mutL homolog in hereditary colon cancer
Affiliations
- PMID: 8128251
- DOI: 10.1126/science.8128251
Item in Clipboard
Mutation of a mutL homolog in hereditary colon cancer
Science.
.
Abstract
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.
Comment in
-
Stalking the start of colon cancer.Science. 1994 Mar 18;263(5153):1559-60. doi: 10.1126/science.8128240. Science. 1994. PMID: 8128240 No abstract available.
Similar articles
-
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.J Biol Chem. 1999 Mar 5;274(10):6336-41. doi: 10.1074/jbc.274.10.6336. J Biol Chem. 1999. PMID: 10037723
-
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.Nature. 1994 Mar 17;368(6468):258-61. doi: 10.1038/368258a0. Nature. 1994. PMID: 8145827
-
Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.Cancer Res. 2002 Jan 1;62(1):38-42. Cancer Res. 2002. PMID: 11782355
-
Mutations predisposing to hereditary nonpolyposis colorectal cancer.Adv Cancer Res. 1997;71:93-119. doi: 10.1016/s0065-230x(08)60097-4. Adv Cancer Res. 1997. PMID: 9111864 Review.
-
Molecular basis of HNPCC: mutations of MMR genes.Hum Mutat. 1997;10(2):89-99. doi: 10.1002/(SICI)1098-1004(1997)10:2<89::AID-HUMU1>3.0.CO;2-H. Hum Mutat. 1997. PMID: 9259192 Review.
Cited by
-
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3. Am J Gastroenterol. 2015. PMID: 25645574 Free PMC article. Review.
-
A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.Croat Med J. 2012 Oct;53(5):496-501. doi: 10.3325/cmj.2012.53.496. Croat Med J. 2012. PMID: 23100212 Free PMC article.
-
Nuclear reorganization of DNA mismatch repair proteins in response to DNA damage.DNA Repair (Amst). 2010 Feb 4;9(2):120-33. doi: 10.1016/j.dnarep.2009.11.003. Epub 2009 Dec 8. DNA Repair (Amst). 2010. PMID: 20004149 Free PMC article.
-
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.PLoS Genet. 2005 Oct;1(4):e56. doi: 10.1371/journal.pgen.0010056. Epub 2005 Oct 28. PLoS Genet. 2005. PMID: 16254605 Free PMC article.
-
Genetic alterations in head and neck cancer: interactions among environmental carcinogens, cell cycle control, and host DNA repair.Curr Oncol Rep. 2001 Jan;3(1):66-71. doi: 10.1007/s11912-001-0045-0. Curr Oncol Rep. 2001. PMID: 11123872 Review.
Publication types
MeSH terms
Substances
Associated data
- Actions
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases
Research Materials
