Abstract
Somatic mutations of phosphatidylinositol 3-kinase (PI3K) catalytic subunit (PIK3CA) play an important role in tumorigenesis. Using PCR-SSCP, followed by sequencing, we examined the PIK3CA gene over the previously identified mutational hotspots in a panel of 50 breast cancer and 5 normal breast tissue, as well as 50 normal blood samples isolated from a population of Iranian patients. In the present study, the frequency of PIK3CA mutation was 14%. However, the previously identified hotspot mutations in exons 20 were completely absent in these breast cancer samples. Instead, we found a new hotspot mutation (3 of 50 samples) in exon 20.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Asian People / genetics*
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Base Sequence
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Breast Neoplasms / enzymology
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Breast Neoplasms / ethnology
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Breast Neoplasms / genetics*
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Breast Neoplasms / secondary
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Case-Control Studies
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Chi-Square Distribution
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Class I Phosphatidylinositol 3-Kinases
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DNA Mutational Analysis
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Exons
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Female
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Genetic Predisposition to Disease
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Humans
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Iran / epidemiology
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Lymphatic Metastasis
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Middle Aged
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Molecular Sequence Data
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Mutation*
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Neoplasm Staging
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Odds Ratio
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Phenotype
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Phosphatidylinositol 3-Kinases / genetics*
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Polymerase Chain Reaction
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Polymorphism, Single-Stranded Conformational
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Risk Assessment
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Risk Factors
Substances
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Class I Phosphatidylinositol 3-Kinases
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PIK3CA protein, human