Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors Journal Article
| Authors: | Favis, R.; Huang, J.; Gerry, N. P.; Culliford, A.; Paty, P.; Soussi, T.; Barany, F. |
| Article Title: | Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors |
| Abstract: | Both the mutational status and the specific mutation of TP53 (p53) have been shown to impact both tumor prognosis and response to therapies. Molecular profiling of solid tumors is confounded by infiltrating wild-type cells, since normal DNA can interfere with detection of mutant sequences. Our objective was to identify TP53 mutations in 138 stage I-IV colorectal adenocarcinomas and liver metastases without first enriching for tumor cells by microdissection. To achieve this, we developed a harmonized protocol involving multiplex polymerase chain reaction/ligase detection reaction (PCR/LDR) with Universal DNA microarray analysis and endonuclease V/ligase mutation scanning. Sequences were verified using dideoxy sequencing. The harmonized protocol detected all 66 mutations. Dideoxy sequencing detected 41 out of 66 mutations (62%) using automated reading, and 59 out of 66 mutations (89%) with manual reading. Data analysis comparing colon cancer entries in the TP53 database (http://p53.curie.fr) with the results reported in this study showed that distribution of mutations and the mutational events were comparable. © 2004 Wiley-Liss, Inc. |
| Keywords: | controlled study; gene mutation; major clinical study; missense mutation; liver neoplasms; neoplasm staging; polymerase chain reaction; adenocarcinoma; phenotype; cohort studies; gene expression profiling; genotype; protein p53; colorectal neoplasms; tumor suppressor gene; liver metastasis; dna; oligonucleotide array sequence analysis; colorectal tumor; nucleotide sequence; dna, neoplasm; tumor cell; dna microarray; dna mutational analysis; microarray; endonuclease; colon adenocarcinoma; nonsense mutation; p53; genes, p53; mutation detection; tp53; tp53 gene; humans; human; priority journal; article; endonuclease v; mismatch recognition; thermostable ligase; zip-code addressing |
| Journal Title: | Human Mutation |
| Volume: | 24 |
| Issue: | 1 |
| ISSN: | 1059-7794 |
| Publisher: | Wiley Liss |
| Date Published: | 2004-07-01 |
| Start Page: | 63 |
| End Page: | 75 |
| Language: | English |
| DOI: | 10.1002/humu.20069 |
| PROVIDER: | scopus |
| PUBMED: | 15221790 |
| DOI/URL: | |
| Notes: | Hum. Mutat. -- Cited By (since 1996):17 -- Export Date: 16 June 2014 -- CODEN: HUMUE -- Molecular Sequence Numbers: GENBANK: X54156; -- Source: Scopus |
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