ArticleJournal of cancer research and clinical oncology2010
Alterations in p53, BRCA1, ATM, PIK3CA, and HER2 genes and their effect in modifying clinicopathological characteristics and overall survival of Bulgarian patients with breast cancer.
Article in Journal of cancer research and clinical oncology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic identification of mutations and copy number alterations associated with cancer patient prognosis.eLife · 2018Pooled it
- Prognostic role of PIK3CA mutations and their association with hormone receptor expression in breast cancer: a meta-analysis.Scientific reports · 2014Pooled it
- Article
- Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations.Journal of personalized medicine · 2023Review
- The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis.Cancer cell international · 2021Review
- Characterization of AKT Somatic Mutations in Chinese Breast Cancer Patients.Cancer management and research · 2021Article
- The distinct clinicopathological and prognostic implications ofCancer management and research · 2019Article
- ATM in breast and brain tumors: a comprehensive review.Cancer biology & medicine · 2018Article
- ATM may be a protective factor in endometrial carcinogenesis with the progesterone pathway.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015Article
- PI3K mutations in breast cancer: prognostic and therapeutic implications.Breast cancer (Dove Medical Press) · 2015Review
- Deregulation of the EGFR/PI3K/PTEN/Akt/mTORC1 pathway in breast cancer: possibilities for therapeutic intervention.Oncotarget · 2014Review
- PIK3CA mutations define favorable prognostic biomarkers in operable breast cancer: a systematic review and meta-analysis.OncoTargets and therapy · 2014Article
- Chromogenic in situ hybridization compared with other approaches to evaluate HER2/neu status in breast carcinomas.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2013Review
- Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThough p53, BRCA1, ATM, PIK3CA, and HER2 genes are shown to be involved in various aspects of breast carcinogenesis, their functional relationship and clinical value are still disputable. We investigated the genetic status or expression profile of these genes to further elucidate their clinical significance.
methodsPCR-SSCP-Sequencing of p53, BRCA1, ATM, and PIK3CA was performed in 145 Bulgarian patients with sporadic breast cancer. Expression profiles of HER2 were determined by ICH and CISH. Relationship between mutations and clinicopathological characteristics was evaluated by Chi-squared and Fisher's exact tests. Multivariate Cox proportional hazard test and Kaplan-Meier analysis were used to evaluate differences in overall survival between groups.
resultsThe frequency of p53 (22.07%), BRCA1 (0.69%), ATM (7.59%), and PIK3CA (31.25%) alterations and HER2 (21.21%) overexpression was estimated. Mutated p53 was associated with tumor size (P = 0.033) and grade of malignancy (P = 0.001), ATM--with grade of malignancy (P = 0.032), and PIK3CA--with PR-positive tumors (P = 0.047). HER2 overexpression correlated with age of diagnosis (P = 0.009), tumor size (P = 0.0004), and ER expression (P = 0.011). Univariate survival analysis showed that mutated p53 is an indicator for worse outcome (P = 0.041). Combination of two genetic abnormalities did not correlate with more aggressive carcinogenesis and worse overall survival.
conclusionsOur data indicated that p53, BRCA1, ATM, PIK3CA, and HER2 alterations specifically correlate with clinicopathological characteristics of Bulgarian patients with breast cancer. Of these genes, only mutated p53 showed significant, though not independent, negative effect on overall survival.
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