Abstract
Aim - To investigate whether PTEN/MMAC1 mutations play a role in the carcinogenesis of oesophageal squamous cell carcinoma. Methods - A panel of 33 primary oesophageal squamous cell carcinoma tumour samples and 20 corresponding morphologically normal tissues was examined for mutations in all nine exons of the PTEN/MMAC1 gene by means of polymerase chain reaction single strand conformational polymorphism analysis (PCR-SSCP) and direct DNA sequencing methods. Results - Only one of 33 oesophageal squamous cell carcinomas showed an aberrant SSCP band. Further sequencing analysis of this sample revealed an 802 -29 T → C substitution in intron 7. PTEN/MMAC1 mutations were not found in the mutational 'hot spot' in exon 5, even after direct sequencing of six oesophageal squamous cell carcinoma samples and three normal tissues. However, a deletion of one nucleotide T at position 492 +8 in intron 5 was seen in all samples. Conclusion - These results suggest that PTEN/MMAC1 mutations do not play a major role in the carcinogenesis of oesophageal squamous cell carcinoma.
Original language | English |
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Pages (from-to) | 353-356 |
Number of pages | 4 |
Journal | Journal of Clinical Pathology - Molecular Pathology |
Volume | 52 |
Issue number | 6 |
DOIs | |
Publication status | Published - 1 Jan 1999 |
Externally published | Yes |
Keywords
- Mutation
- Oesophageal carcinoma
- Polymerase chain reaction single strand conformational polymorphism analysis
- PTEN/MMAC1
ASJC Scopus subject areas
- Pathology and Forensic Medicine