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PIK3CA IN BREAST CARCINOMA. A MUTATIONAL ANALYSIS OF SPORADIC AND HEREDITARY CASES
- Publication Year :
- 2008
-
Abstract
- The PI3K-Akt cascade is a key signaling pathway involved in cell proliferation, survival, and growth. Activating PIK3CA mutations have been reported in breast carcinoma (BC). The aim of this study was to characterize the PIK3CA mutations at exons 9 and 20 in a series of 176 sporadic and 22 hereditary BCs and to correlate the results with clinicopathologic parameters and survival. In sporadic BC, 68 missense mutations were detected. PIK3CA mutations were significantly associated with ER+ in HER2-negative cases. A higher frequency of PIK3CA mutations was present in lobular carcinoma compared with ductal carcinoma (50% vs. 35%). There was no association between the survival and PIK3CA mutational status. In hereditary BC, PIK3CA mutations were found only in the BRCA2 group. The PIK3CA mutation seems to characterize the luminal-type BC, in both sporadic and BRCA2 mutated forms, and is absent in the basal-type BC, in both the sporadic and BRCA1 mutated forms.
- Subjects :
- Oncology
medicine.medical_specialty
Class I Phosphatidylinositol 3-Kinases
Ubiquitin-Protein Ligases
overall survival
DNA Mutational Analysis
Mutation, Missense
Breast Neoplasms
Kaplan-Meier Estimate
Adenocarcinoma
Biology
Pathology and Forensic Medicine
Phosphatidylinositol 3-Kinases
Exon
breast cancer
Internal medicine
Biomarkers, Tumor
medicine
Humans
molecular biology
familial carcinoma
hereditary breast cancer
pik3ca mutations
sporadic breast cancer
neoplasms
Germ-Line Mutation
BRCA2 Protein
Carcinoma, Ductal, Breast
DNA, Neoplasm
Cell Biology
Middle Aged
Adenocarcinoma, Mucinous
Survival Rate
Mutational analysis
Carcinoma, Lobular
Italy
Female
Lymph Nodes
Signal transduction
Apoptosis Regulatory Proteins
Breast carcinoma
Subjects
Details
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....dba8eed7d6a22fba1e2c410755d22d3e