Intrachromosomal genomic instability in human sporadic colorectal cancer measured by genome-wide allelotyping and inter-(simple sequence repeat) PCR.

We have used genome-wide allelotyping with 348 polymorphic autosomal markers spaced, on average, 10 cM apart to quantitate the extent of intrachromosomal instability in 59 human sporadic colorectal carcinomas. We have compared instability measured by this method with that measured by inter-(simple sequence repeat) PCR and microsatellite instability assays. Instability quantitated by fractional allelic loss rates was found to be independent of that detected by microsatellite instability analyses but was weakly associated with that measured by inter-(simple sequence repeat) PCR. A set of seven loci were identified that were most strongly associated with elevated rates of fractional allelic loss and/or inter-(simple sequence repeat) PCR instability; these seven loci were on chromosomes 3, 8, 11, 13, 14, 18, and 20. A lesser association was seen with two loci flanking p53 on chromosome 17. Coordinate loss patterns for these loci suggest that at least two separate sets of cooperating loci exist for intrachromosomal genomic instability in human colorectal cancer.

[1]  C. Conti,et al.  Application of inter–simple sequence repeat PCR to mouse models: Assessment of genetic alterations in carcinogenesis , 2002, Genes, chromosomes & cancer.

[2]  H. Rubin Selective clonal expansion and microenvironmental permissiveness in tobacco carcinogenesis , 2002, Oncogene.

[3]  Giovanni Parmigiani,et al.  Prevalence of somatic alterations in the colorectal cancer cell genome , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[4]  W. Bodmer,et al.  Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait. , 2002, Cancer research.

[5]  D. Stoler,et al.  Cancer: the evolved consequence of a destabilized genome , 2001, BioEssays : news and reviews in molecular, cellular and developmental biology.

[6]  R. Albertini,et al.  HPRT mutations in humans: biomarkers for mechanistic studies. , 2001, Mutation research.

[7]  I. Tomlinson Mutations in normal breast tissue and breast tumours , 2001, Breast Cancer Research.

[8]  R. Kolodner,et al.  Multiple pathways cooperate in the suppression of genome instability in Saccharomyces cerevisiae , 2001, Nature.

[9]  J W Gray,et al.  Comprehensive genome sequence analysis of a breast cancer amplicon. , 2001, Genome research.

[10]  F. Collins,et al.  Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers , 2001, Human mutation.

[11]  P. Edwards,et al.  Spectral karyotyping suggests additional subsets of colorectal cancers characterized by pattern of chromosome rearrangement , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[12]  Richard D. Wood,et al.  Human DNA Repair Genes , 2001, Science.

[13]  K. Kinzler,et al.  Mechanisms underlying losses of heterozygosity in human colorectal cancers , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[14]  H. Rubin Selected cell and selective microenvironment in neoplastic development. , 2001, Cancer research.

[15]  J. Lutterbaugh,et al.  Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer. , 2001, Cancer research.

[16]  S. Goodman,et al.  Evidence that genetic instability occurs at an early stage of colorectal tumorigenesis. , 2001, Cancer research.

[17]  A. Lindblom Different mechanisms in the tumorigenesis of proximal and distal colon cancers , 2001, Current opinion in oncology.

[18]  R. Kolodner,et al.  SGS1, the Saccharomyces cerevisiae homologue of BLM and WRN, suppresses genome instability and homeologous recombination , 2001, Nature Genetics.

[19]  H. Rubin,et al.  Clonal selection versus genetic instability as the driving force in neoplastic transformation. , 2000, Cancer research.

[20]  J W Gray,et al.  An approach to analysis of large-scale correlations between genome changes and clinical endpoints in ovarian cancer. , 2000, Cancer research.

[21]  C. Yue,et al.  Genome-wide search for loss of heterozygosity using laser capture microdissected tissue of breast carcinoma: an implication for mutator phenotype and breast cancer pathogenesis. , 2000, Cancer research.

[22]  H. Lynch,et al.  Hereditary nonpolyposis colorectal cancer. , 2000, Seminars in surgical oncology.

[23]  W. Kuo,et al.  Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene , 2000, Nature Genetics.

[24]  R. Kolodner,et al.  Links between replication, recombination and genome instability in eukaryotes. , 2000, Trends in biochemical sciences.

[25]  J. Gray,et al.  Genome changes and gene expression in human solid tumors. , 2000, Carcinogenesis.

[26]  K. Loeb,et al.  Significance of multiple mutations in cancer. , 2000, Carcinogenesis.

[27]  S. Tavaré,et al.  Genetic reconstruction of individual colorectal tumor histories. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[28]  N. Ahuja,et al.  Distinct genetic profiles in colorectal tumors with or without the CpG island methylator phenotype. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[29]  C. Barlow,et al.  Atm deficiency causes an increased frequency of intrachromosomal homologous recombination in mice. , 2000, Cancer research.

[30]  A. Knudson,et al.  Chasing the cancer demon. , 2000, Annual review of genetics.

[31]  Andreas D. Baxevanis,et al.  MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability , 2000, Nature Genetics.

[32]  N. Petrelli,et al.  The onset and extent of genomic instability in sporadic colorectal tumor progression. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[33]  R. Kolodner,et al.  Multiple functions of MutS- and MutL-related heterocomplexes. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[34]  R. Fishel Signaling mismatch repair in cancer , 1999, Nature Medicine.

[35]  N. Nowak,et al.  Genome-wide allelotyping indicates increased loss of heterozygosity on 9p and 14q in early age of onset colorectal cancer , 1999, Cytogenetic and Genome Research.

[36]  William F. Morgan,et al.  Genomic instability in Gadd45a-deficient mice , 1999, Nature Genetics.

[37]  R. Fishel,et al.  Dissociation of Mismatch Recognition and ATPase Activity by hMSH2-hMSH3* , 1999, The Journal of Biological Chemistry.

[38]  J. Herman,et al.  CpG island methylator phenotype in colorectal cancer. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[39]  R. Heim,et al.  Using GFP in FRET-based applications. , 1999, Trends in cell biology.

[40]  R. Scott,et al.  Prognostic implications of cancer susceptibility genes: any news? , 1999, Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer.

[41]  Ian Tomlinson,et al.  Selection, the mutation rate and cancer: Ensuring that the tail does not wag the dog , 1999, Nature medicine.

[42]  S Srivastava,et al.  A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. , 1998, Cancer research.

[43]  J. Yokota,et al.  Molecular karyotype (amplotype) of metastatic colorectal cancer by unbiased arbitrarily primed PCR DNA fingerprinting. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[44]  R. Davies,et al.  The effect of dietary vitamin D3 on the intracellular calcium gradient in mammalian colonic crypts. , 1998, Cancer letters.

[45]  G. Wahl,et al.  Gene Amplification in a p53-Deficient Cell Line Requires Cell Cycle Progression under Conditions That Generate DNA Breakage , 1998, Molecular and Cellular Biology.

[46]  D. Church,et al.  Transcript mapping of the human chromosome 11q12-q13.1 gene-rich region identifies several newly described conserved genes. , 1998, Genomics.

[47]  T. Tlsty,et al.  Identification of additional complementation groups that regulate genomic instability , 1997, Genes, chromosomes & cancer.

[48]  J. Schiller,et al.  Comparison of spontaneous and induced mutation rates in an immortalized human bronchial epithelial cell line and its tumorigenic derivative. , 1997, Oncology.

[49]  Bert Vogelstein,et al.  Gatekeepers and caretakers , 1997, Nature.

[50]  K. Kinzler,et al.  Genetic instability in colorectal cancers , 1997, Nature.

[51]  N. Petrelli,et al.  Genomic instability in sporadic colorectal cancer quantitated by inter‐simple sequence repeat PCR analysis , 1997, Genes, chromosomes & cancer.

[52]  I. Godwin,et al.  Application of inter simple sequence repeat (ISSR) markers to plant genetics , 1997, Electrophoresis.

[53]  N. Petrelli,et al.  p53 tumor suppressor gene status and the degree of genomic instability in sporadic colorectal cancers. , 1996, Journal of the National Cancer Institute.

[54]  R. Fishel Genomic instability, mutators, and the development of cancer: is there a role for p53? , 1996, Journal of the National Cancer Institute.

[55]  B. Vogelstein,et al.  Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer. , 1995, Oncogene.

[56]  M. Meuth,et al.  Mutator phenotypes in human colorectal carcinoma cell lines. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[57]  J. Day,et al.  Delayed chromosomal instability induced by DNA damage , 1993, Molecular and cellular biology.

[58]  G. Gyapay,et al.  A second-generation linkage map of the human genome , 1992, Nature.

[59]  Thea D. Tlsty,et al.  Altered cell cycle arrest and gene amplification potential accompany loss of wild-type p53 , 1992, Cell.

[60]  R. Schimke Gene amplification; what are we learning? , 1992, Mutation research.

[61]  M. Gould,et al.  Comparison of spontaneous mutagenesis in early‐passage human mammary cells from normal and malignant tissues , 1992, International journal of cancer.

[62]  L. Loeb,et al.  Mutator phenotype may be required for multistage carcinogenesis. , 1991, Cancer research.

[63]  B H Margolin,et al.  Differences in the rates of gene amplification in nontumorigenic and tumorigenic cell lines as measured by Luria-Delbrück fluctuation analysis. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[64]  D. Kaden,et al.  Spontaneous mutation rates of tumorigenic and nontumorigenic Chinese hamster embryo fibroblast cell lines. , 1989, Cancer research.

[65]  A. Morley,et al.  Mutation rate of normal and malignant human lymphocytes. , 1987, Cancer research.

[66]  J. Barrett,et al.  Comparison of spontaneous mutation rates of normal and chemically transformed human skin fibroblasts. , 1983, Cancer research.