Molecular Analysis of the P27/Kip1 Gene in Breast Cancer
| Autor: | Nur Buyru, Hatice Tigli, Nejat Dalay |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Genetics
Silent mutation Nonsense mutation Intracellular Signaling Peptides and Proteins Down-Regulation Cancer Breast Neoplasms General Medicine Biology Gene mutation medicine.disease medicine.disease_cause Breast cancer Mutation medicine Humans Female Allele Carrier Proteins Carcinogenesis Gene Cyclin-Dependent Kinase Inhibitor p27 Polymorphism Restriction Fragment Length Polymorphism Single-Stranded Conformational |
| Zdroj: | Molecular Diagnosis. 9:17-21 |
| ISSN: | 1084-8592 |
| DOI: | 10.2165/00066982-200509010-00003 |
| Popis: | Background: Genetic polymorphisms and mutations of the genes involved in tumorigenesis may determine individual susceptibility for cancer. The p27/Kip1 protein belongs to the family of cyclin-dependent kinase-inhibitory proteins, which are negative regulators of cell-cycle progression. Reduced protein levels of p27/Kip1 have been reported in numerous human cancers including breast cancer. Methods and results: p27 gene mutations and the codon 109 polymorphism were investigated in breast cancer patients by single strand conformation polymorphism analysis, PCR-restriction fragment length polymorphism analysis and DNA sequencing. Mutations were identified in 2 of 24 breast tumor samples. One G→A transition resulting in a silent mutation and a single base deletion resulting in a nonsense mutation were detected in one patient. Another breast cancer sample harbored a T→A transition at codon 159. An association between the codon 109 B allele and breast cancer was observed. Conclusion: Our study indicates that mutational alterations in the p27 gene are rare in human breast cancer. The codon 109 B allele is associated with high-grade tumors. |
| Databáze: | OpenAIRE |
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