Human somatic mutation assays as biomarkers of carcinogenesis.

This paper describes four assays that detect somatic gene mutations in humans: the hypoxanthine-guanine phosphoribosyl transferase assay, the glycophorin A assay, the HLA-A assay, and the sickle cell hemoglobin assay. Somatic gene mutation can be considered a biomarker of carcinogenesis, and assays for somatic mutation may assist epidemiologists in studies that attempt to identify factors associated with increased risks of cancer. Practical aspects of the use of these assays are discussed.

[1]  R. Albertini,et al.  Molecular analyses of in vivo hprt mutations in human t‐lymphocytes: IV. Studies in Newborns , 1989, Environmental and molecular mutagenesis.

[2]  T. P. Dryja,et al.  Expression of recessive alleles by chromosomal mechanisms in retinoblastoma , 1983, Nature.

[3]  W. Thilly,et al.  Direct measurement of mutational spectra in humans. , 1989, Genome.

[4]  A. Morley,et al.  The HLA-A mutation assay: improved technique and normal results. , 1989, Mutation research.

[5]  J. Klein Natural history of the major histocompatibility complex , 1986 .

[6]  M. Paterson,et al.  Ataxia Telangiectasia: An Inherited Human Disease Involving Radiosensitivity, Malignancy and Defective DNA Repair , 1977 .

[7]  Vijayalaxmi,et al.  Bloom's syndrome: evidence for an increased mutation frequency in vivo. , 1983, Science.

[8]  W. Bigbee,et al.  Evidence for an elevated frequency of in vivo somatic cell mutations in ataxia telangiectasia. , 1989, American journal of human genetics.

[9]  R. Albertini,et al.  Refinement of a T-lymphocyte cloning assay to quantify the in vivo thioguanine-resistant mutant frequency in humans. , 1987, Mutagenesis.

[10]  Kevin J. Trainor,et al.  Mutation frequency in human lymphocytes increases with age , 1984, Mechanisms of Ageing and Development.

[11]  A. Morley,et al.  Mutations in human lymphocytes studied by an HLA selection system. , 1988, Mutation research.

[12]  E. Branscomb,et al.  Use of Fluorescence-Activated Cell Sorter for Screening Mutant Cells , 1984 .

[13]  J. Rowley A New Consistent Chromosomal Abnormality in Chronic Myelogenous Leukaemia identified by Quinacrine Fluorescence and Giemsa Staining , 1973, Nature.

[14]  A. Morley,et al.  Mutations in human lymphocytes commonly involve gene duplication and resemble those seen in cancer cels. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[15]  M. Akiyama,et al.  Detection of somatic mutations at the glycophorin A locus in erythrocytes of atomic bomb survivors using a single beam flow sorter. , 1989, Cancer research.

[16]  R. Albertini,et al.  Mutagenicity monitoring in humans by autoradiographic assay for mutant T lymphocytes. , 1988, Mutation research.

[17]  E. Benditt The origin of atherosclerosis. , 1977, Scientific American.

[18]  K. Messing,et al.  Exposure of nuclear medicine patients to ionizing radiation is associated with rises in HPRT- mutant frequency in peripheral T-lymphocytes. , 1987, Mutation research.

[19]  G. Stamatoyannopoulos,et al.  Somatic-Cell Mutation Monitoring System Based on Human Hemoglobin Mutants , 1984 .

[20]  T. Kirkwood,et al.  DNA, mutations and aging. , 1988, Mutation research.

[21]  J. Ferraris,et al.  Mutant frequency of radiotherapy technicians appears to be associated with recent dose of ionizing radiation. , 1989, Health physics.

[22]  R. Albertini,et al.  Enumeration of 6-thioguanine-resistant peripheral blood lymphocytes in man as a potential test for somatic cell mutations arising in vivo. , 1979, Mutation research.

[23]  B. Vogelstein,et al.  A genetic model for colorectal tumorigenesis , 1990, Cell.

[24]  F. Perera,et al.  A pilot project in molecular cancer epidemiology: determination of benzo[a]pyrene--DNA adducts in animal and human tissues by immunoassays. , 1982, Carcinogenesis.

[25]  B. Hulka,et al.  Biological markers in epidemiology , 1990 .

[26]  J. Weissenbach,et al.  A sex chromosome rearrangement in a human XX male caused by Alu—Alu recombination , 1987, Cell.

[27]  T. Skopek,et al.  hprt mutations in vivo in human T-lymphocytes: frequencies, spectra and clonality. , 1990, Progress in clinical and biological research.

[28]  W. Bigbee,et al.  Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[29]  D. Beare,et al.  HPRT somatic mutation data. , 1990, Progress in clinical and biological research.

[30]  Kevin J. Trainor,et al.  Measurement of in vivo mutations in human lymphocytes , 1983, Nature.

[31]  A. Wyrobek,et al.  The effect of chemotherapy on the in vivo frequency of glycophorin A 'null' variant erythrocytes. , 1990, Mutation research.

[32]  R. Albertini,et al.  Molecular analyses of in vivo hprt mutations in human T-lymphocytes. III. Longitudinal study of hprt gene structural alterations and T-cell clonal origins. , 1989, Mutation research.

[33]  M. Green,et al.  Genotoxic effects of radiotherapy and chemotherapy on the circulating lymphocytes of breast cancer patients. III: Measurement of mutant frequency to 6-thioguanine resistance. , 1990, Mutagenesis.

[34]  R. Kohn Mutations and Aging. , 1963, Science.

[35]  R. Albertini,et al.  6-Thioguanine-resistant T-lymphocyte autoradiographic assay. Determination of variation frequencies in individuals suspected of radiation exposure. , 1990, Mutation research.

[36]  H. Lodish Molecular Cell Biology , 1986 .

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

[38]  A. Morley,et al.  Molecular nature of in vivo mutations in human cells at the autosomal HLA-A locus. , 1990, Cancer research.

[39]  J. Thacker,et al.  A simple autoradiographic method for checking HGPRT-deficiency in colonies of mammalian cells. , 1982, Mutation research.

[40]  R. Albertini,et al.  Longitudinal study of the in vivo hprt mutant frequency in human T‐lymphocytes as determined by a cell cloning assay , 1989, Environmental and molecular mutagenesis.

[41]  K. Messing,et al.  In vivo mutant frequency rises among breast cancer patients after exposure to high doses of gamma-radiation. , 1985, Mutation research.

[42]  W. Bigbee,et al.  An improved flow cytometric assay for somatic mutations at the glycophorin A locus in humans. , 1990, Cytometry.

[43]  K. Messing,et al.  In vivo mutant frequency of technicians professionally exposed to ionizing radiation. , 1986, Progress in clinical and biological research.

[44]  A. Morley,et al.  Increased mutation frequency following treatment with cancer chemotherapy. , 1985, Cancer research.

[45]  A. Tates,et al.  Detection of somatic mutants in man: HPRT mutations in lymphocytes and hemoglobin mutations in erythrocytes. , 1989, Mutation research.

[46]  J. Belli,et al.  Comparison of Hprt variant frequencies and chromosome aberration frequencies in lymphocytes from radiotherapy and chemotherapy patients: A Prospective Study , 1991, Environmental and molecular mutagenesis.

[47]  E. Whorton,et al.  Elevated frequencies of 6-thioguanine-resistant lymphocytes in multiple sclerosis patients treated with cyclophosphamide: a prospective study. , 1988, Mutation research.

[48]  M. Green,et al.  A further assessment of factors influencing measurements of thioguanine-resistant mutant frequency in circulating T-lymphocytes. , 1988, Mutation research.

[49]  S. Wolff Sister chromatid exchange. , 1977, Annual review of genetics.

[50]  R. Albertini,et al.  In vivo hprt mutant frequencies in T-cells of normal human newborns. , 1990, Mutation research.

[51]  W. Cavenee,et al.  Recessive mutant genes predisposing to human cancer. , 1986, Progress in clinical and biological research.

[52]  S. Gilgenkrantz,et al.  [CHROMOSOME ABERRATIONS]. , 1963, Annales medicales de Nancy.

[53]  R. Albertini,et al.  T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood. , 1982, Proceedings of the National Academy of Sciences of the United States of America.