Towards fast and inexpensive molecular diagnostic: the case of TP53.

BACKGROUND Much research suggests that TP53 mutations have prognostic importance and sometimes are a significant factor in clinical oncology. A considerable effort has been made to develop fast and inexpensive methods for TP53 mutations detection. METHODS On the basis of describing the role of TP53 as tumor suppressor gene and TP53 mutation spectrum, the authors discuss conventional methods and new technologies for TP53 mutations detection. This discussion is supported by more recent publications in the field of both molecular genetics and analysis technologies. RESULTS Biosensors and gene chips are of considerable recent interest, due to their tremendous promise for obtaining sequence-specific information in a faster, simpler and cheaper manner compared to traditional methods. CONCLUSIONS New methods such as biosensors and gene chips appear promising as analytical methods of detecting mutations.

[1]  D. Smith,et al.  p53 point mutation and survival in colorectal cancer patients. , 1995, Cancer research.

[2]  A. Levine,et al.  Mutant p53 gain of function: differential effects of different p53 mutants on resistance of cultured cells to chemotherapy , 1999, Oncogene.

[3]  T. Nukiwa,et al.  Administration of wild-type p53 adenoviral vector synergistically enhances the cytotoxicity of anti-cancer drugs in human lung cancer cells irrespective of the status of p53 gene. , 2000, Cancer letters.

[4]  T. Allen-Mersh,et al.  p53 Mutation and response to hepatic arterial floxuridine in patients with colorectal liver metastases , 2001, Journal of Cancer Research and Clinical Oncology.

[5]  D. Ryberg,et al.  p53 mutations in defined structural and functional domains are related to poor clinical outcome in non-small cell lung cancer patients. , 2000, Clinical cancer research : an official journal of the American Association for Cancer Research.

[6]  H. Toyoshiba,et al.  Relative quantitation of p53 and MDM2 gene expression in leiomyosarcoma; real-time semi-quantitative reverse transcription-polymerase chain reaction. , 2001, Cancer letters.

[7]  S. Steinberg,et al.  Comparative study of tumor angiogenesis and immunohistochemistry for p53, c-ErbB2, c-myc and EGFr as prognostic factors in gastric cancer. , 2000, Histology and histopathology.

[8]  H. Kondo,et al.  Electrochemical analysis of single nucleotide polymorphisms of p53 gene. , 2002, Talanta.

[9]  G Marrazza,et al.  Detection of human apolipoprotein E genotypes by DNA electrochemical biosensor coupled with PCR. , 2000, Clinical chemistry.

[10]  M. Uhlén,et al.  Detection of mutations in PCR products from clinical samples by surface plasmon resonance , 1997, Journal of molecular recognition : JMR.

[11]  E. Gross,et al.  Mutation analysis of p53 in ovarian tumors by DHPLC. , 2001, Journal of biochemical and biophysical methods.

[12]  J. M. Lee,et al.  p53 mutations increase resistance to ionizing radiation. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[13]  S Fields,et al.  Mutation detection by a two-hybrid assay. , 1998, Human molecular genetics.

[14]  S. Caldeira,et al.  The role of TP53 in Cervical carcinogenesis , 2003, Human mutation.

[15]  G. Giglia-Mari,et al.  TP53 mutations in human skin cancers , 2003, Human mutation.

[16]  A. Walch,et al.  Staining patterns of p53 immunohistochemistry and their biological significance in colorectal cancer , 2000, The Journal of pathology.

[17]  J. Overgaard,et al.  TP53 mutation is related to poor prognosis after radiotherapy, but not surgery, in squamous cell carcinoma of the head and neck. , 2001, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

[18]  J Wang,et al.  Electrochemical biosensors for DNA hybridization and DNA damage. , 1998, Biosensors & bioelectronics.

[19]  V. Sheffield,et al.  Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[20]  C. Eng,et al.  Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests. , 1998, Nucleic acids research.

[21]  Tim Crook,et al.  The p53 network in head and neck cancer. , 2003, Oral oncology.

[22]  F. Barany,et al.  An endonuclease/ligase based mutation scanning method especially suited for analysis of neoplastic tissue , 2002, Oncogene.

[23]  J Wang,et al.  Mismatch-sensitive hybridization detection by peptide nucleic acids immobilized on a quartz crystal microbalance. , 1997, Analytical chemistry.

[24]  M. Hollstein,et al.  p53 and human cancer: the first ten thousand mutations. , 2000, Advances in cancer research.

[25]  D. Sidransky,et al.  O6-Methylguanine-DNA Methyltransferase Promoter Hypermethylation Shifts the p53 Mutational Spectrum in Non-Small Cell Lung Cancer , 2001 .

[26]  P. Nilsson,et al.  Analysis of oligonucleotide probe affinities using surface plasmon resonance: a means for mutational scanning. , 1997, Analytical biochemistry.

[27]  Thierry Soussi,et al.  Assessing TP53 status in human tumours to evaluate clinical outcome , 2001, Nature Reviews Cancer.

[28]  W. Thilly,et al.  Two-point fluorescence detection and automated fraction collection applied to constant denaturant capillary electrophoresis. , 2000, BioTechniques.

[29]  E. Berns,et al.  TP53 and ovarian cancer , 2003, Human mutation.

[30]  D M Barnes,et al.  Improving the detection of p53 mutations in breast cancer by use of the FASAY, a functional assay. , 2000, The Journal of molecular diagnostics : JMD.

[31]  A. Børresen-Dale,et al.  TP53 and breast cancer , 2003, Human mutation.

[32]  B. Vogelstein,et al.  p53 mutations in human cancers. , 1991, Science.

[33]  T. Ørntoft,et al.  Evaluation of the performance of a p53 sequencing microarray chip using 140 previously sequenced bladder tumor samples. , 2000, Clinical chemistry.

[34]  Stephen N. Jones,et al.  Regulation of p53 stability by Mdm2 , 1997, Nature.

[35]  P. Slootweg,et al.  Gain-of-function mutations in the tumor suppressor gene p53. , 2000, Clinical cancer research : an official journal of the American Association for Cancer Research.

[36]  L. Holmberg,et al.  Complete sequencing of the p53 gene provides prognostic information in breast cancer patients, particularly in relation to adjuvant systemic therapy and radiotherapy , 1995, Nature Medicine.

[37]  F. Zunino,et al.  Apoptosis as a determinant of tumor sensitivity to topotecan in human ovarian tumors: preclinical in vitro/in vivo studies. , 1997, Clinical cancer research : an official journal of the American Association for Cancer Research.

[38]  Wojciech Makalowski,et al.  Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features , 1999, Oncogene.

[39]  C. Harris,et al.  TP53 tumour suppressor gene: clues to molecular carcinogenesis and cancer therapy. , 1996, Cancer surveys.

[40]  P. Laurent-Puig,et al.  TP53 and head and neck neoplasms , 2003, Human mutation.

[41]  S. Asai,et al.  Clinical Application of Oligonucleotide Probe Array for Full-Length Gene Sequencing of TP53 in Colon Cancer , 2002, Oncology.

[42]  R. Mcglennen,et al.  Miniaturization technologies for molecular diagnostics. , 2001, Clinical chemistry.

[43]  A. Levine,et al.  Surfing the p53 network , 2000, Nature.

[44]  T. Vo‐Dinh,et al.  Application of an Antibody Biochip for p53 Detection and Cancer Diagnosis , 2001, Biotechnology progress.

[45]  T. Aas,et al.  Specific P53 mutations are associated with de novo resistance to doxorubicin in breast cancer patients , 1996, Nature Medicine.

[46]  Yoichi Taya,et al.  DNA Damage-Induced Phosphorylation of p53 Alleviates Inhibition by MDM2 , 1997, Cell.

[47]  X. Wang,et al.  TP53 and liver carcinogenesis , 2003, Human mutation.

[48]  L. A. Martín,et al.  NIRCA: a rapid robust method for screening for unknown point mutations. , 1996, BioTechniques.

[49]  W. El-Deiry,et al.  Clinical implication of p53 mutation in lung cancer , 2003, Molecular biotechnology.

[50]  M. Gnant,et al.  Prognostic significance of mutations in the p53 gene, particularly in the zinc-binding domains, in lymph node- and steroid receptor positive breast cancer patients. Austrian Breast Cancer Study Group. , 1999, European journal of cancer.

[51]  B. Iacopetta.  TP53 mutation in colorectal cancer , 2003, Human mutation.

[52]  R. Camplejohn,et al.  p53 functional assays: detecting p53 mutations in both the germline and in sporadic tumours , 2001, Cell proliferation.

[53]  L. Worley,et al.  Altered expression of Rb and p53 in uveal melanomas following plaque radiotherapy. , 2002, American journal of ophthalmology.

[54]  G. Cembrowski,et al.  Adding value to proficiency testing programs. , 2000, Clinical chemistry.

[55]  G. Marrazza,et al.  Detection of human apolipoprotein E genotypes by DNA biosensors coupled with PCR. , 2001, Clinica chimica acta; international journal of clinical chemistry.

[56]  G. Pfeifer.  p53 mutational spectra and the role of methylated CpG sequences. , 2000, Mutation research.

[57]  P. Taylor,et al.  Site-directed mutagenesis of exon 5 of p53: purification, analysis, and validation of amplicons for DHPLC. , 2002, Genetic testing.

[58]  Y. Soini,et al.  A mutant TP53 gene status is associated with a poor prognosis and anthracycline-resistance in breast cancer patients. , 2003, European journal of cancer.

[59]  M. White,et al.  Comparison of TP53 mutations identified by oligonucleotide microarray and conventional DNA sequence analysis. , 2000, Cancer research.

[60]  I. Andrulis,et al.  p53 mutations in epithelial ovarian cancers: possible role in predicting chemoresistance. , 2000, Cancer journal.

[61]  Kevin Ryan,et al.  The alternative product from the human CDKN2A locus, p14ARF, participates in a regulatory feedback loop with p53 and MDM2 , 1998, The EMBO journal.

[62]  Yusuke Nakamura,et al.  p53AIP1, a Potential Mediator of p53-Dependent Apoptosis, and Its Regulation by Ser-46-Phosphorylated p53 , 2000, Cell.

[63]  R. Kreienberg,et al.  Correlation of p53 mutations with resistance to platinum-based chemotherapy and shortened survival in ovarian cancer. , 2001, Clinical cancer research : an official journal of the American Association for Cancer Research.

[64]  P. Nilsson,et al.  Mutational scanning of PCR products by subtractive oligonucleotide hybridization analysis. , 1999, BioTechniques.

[65]  A. Flahault,et al.  p53 gene status as a predictor of tumor response to induction chemotherapy of patients with locoregionally advanced squamous cell carcinomas of the head and neck. , 2000, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[66]  Yuzhi Zhang,et al.  Ligation of a primer at a mutation: a method to detect low level mutations in DNA. , 2002, Mutagenesis.

[67]  B. Kupelnick,et al.  Prognostic significance of p53 mutations in non-small cell lung cancer: a meta-analysis of 829 cases from eight published studies. , 2000, Cancer letters.

[68]  D. Brattström,et al.  Complete sequence of p53 gene in 20 patients with lung cancer: comparison with chemosensitivity and immunohistochemistry , 1998, Medical oncology.

[69]  S. Lowe,et al.  Cancer therapy and p53. , 1995, Current opinion in oncology.

[70]  S. Peller.  Clinical implications of p53: effect on prognosis, tumor progression and chemotherapy response. , 1998, Seminars in cancer biology.

[71]  B. Nordén,et al.  Detection of point mutations in DNA by PNA-based quartz-crystal biosensor , 2000 .

[72]  Thierry Soussi,et al.  Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides , 2003, Human mutation.

[73]  M. Gruidl,et al.  Early detection and prevention of lung cancer. , 2000, Current opinion in oncology.

[74]  Sara Tombelli,et al.  Detection of β-thalassemia by a DNA piezoelectric biosensor coupled with polymerase chain reaction , 2003 .

[75]  H. Ishikawa,et al.  The effects of p53 status and human papillomavirus infection on the clinical outcome of patients with Stage IIIB cervical carcinoma treated with radiation therapy alone , 2001, Cancer.

[76]  J. Jen,et al.  Rapid p53 sequence analysis in primary lung cancer using an oligonucleotide probe array. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[77]  Gustavo Rivas,et al.  Detection of point mutation in the p53 gene using a peptide nucleic acid biosensor , 1997 .

[78]  W P Bennett,et al.  Molecular epidemiology of human cancer risk: gene–environment interactions and p53 mutation spectrum in human lung cancer , 1999, The Journal of pathology.

[79]  M. Inganäs,et al.  Prognostic value of P53 gene mutations in a large series of node-negative breast cancer patients. , 1998, Cancer research.

[80]  G. Luo,et al.  Single-strand conformation polymorphism analysis to detect the p53 mutation in colon tumor samples by capillary electrophoresis. , 2000, Journal of Chromatography A.

[81]  D. Lane,et al.  p53, guardian of the genome , 1992, Nature.