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PIK3CA belongs to the phosphatidylinositol 3-kinases (PI3Ks) family, which play an important role in proliferation, adherence, transformation and cell survival through the PI3K/AKT signaling pathway. Somatic activating mutations of this gene have recently been detected in several types of cancers. In the present study, 109 advanced ovarian carcinomas were analyzed for PIK3CA mutations in exon 9 and exon 20 by direct sequencing. Activating missense mutations were observed in 4 of the 109 tumors in addition to one variant leading no change of the PIK3CA protein. Two of the cases with mutations were mucinous and clear cell tumors, suggesting that PIK3CA mutations are more common in these rare histological types. 相似文献
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Aslaug Helland Hilde Johnsen Caroline Fr?yland Hege B K Landmark Anna B Saetersdal Marit Muri Holmen Turid Gjertsen Jahn M Nesland William Ottestad Stefanie S Jeffrey Lars O Ottestad Olag K Rodningen Gavin Sherlock Anne-Lise B?rresen-Dale 《Radiotherapy and oncology》2006,80(2):230-235
BACKGROUND AND PURPOSE: Breast cancer is diagnosed worldwide in approximately one million women annually and radiation therapy is an integral part of treatment. The purpose of this study was to investigate the molecular basis underlying response to radiotherapy in breast cancer tissue. MATERIAL AND METHODS: Tumour biopsies were sampled before radiation and after 10 treatments (of 2 Gray (Gy) each) from 19 patients with breast cancer receiving radiation therapy. Gene expression microarray analyses were performed to identify in vivo radiation-responsive genes in tumours from patients diagnosed with breast cancer. The mutation status of the TP53 gene was determined by using direct sequencing. RESULTS AND CONCLUSION: Several genes involved in cell cycle regulation and DNA repair were found to be significantly induced by radiation treatment. Mutations were found in the TP53 gene in 39% of the tumours and the gene expression profiles observed seemed to be influenced by the TP53 mutation status. 相似文献
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Lack of association with the CD28/CTLA4/ICOS gene region among Norwegian multiple sclerosis patients
Lorentzen AR Celius EG Ekstrøm PO Wiencke K Lie BA Myhr KM Ling V Thorsby E Vartdal F Spurkland A Harbo HF 《Journal of neuroimmunology》2005,166(1-2):197-201
Chromosome region 2q33 encodes several regulators of the immune system, among these the CD28, CTLA4, and ICOS molecules. Involvement of these genes in multiple sclerosis (MS) is not yet clear. We investigated six microsatellites and three SNPs in a relatively large and clinically well characterised Norwegian MS cohort. No associations were observed for any of the markers analysed in 575 MS patients and 551 controls. Associations were neither found when stratifying the material for the HLA-DRB1*1501, DQB1*0602 haplotype, gender, age at onset, disease course nor familial aggregation. In conclusion, this study could not confirm association with the CD28/CTLA4/ICOS gene region. 相似文献
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A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers 总被引:8,自引:0,他引:8
Jonasdottir A Thorlacius T Fossdal R Jonasdottir A Benediktsson K Benedikz J Jonsson HH Sainz J Einarsdottir H Sigurdardottir S Kristjansdottir G Sawcer S Compston A Stefansson K Gulcher J 《Journal of neuroimmunology》2003,143(1-2):88-92
Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system (CNS) with a complex genetic background. Here we use a genome-wide association strategy with 4804 microsatellite markers successfully typed in separately pooled DNA from 200 patients and 200 controls. A total of 91 markers showed evidence of association. When compared to our in-house physical map of the genome, six 2-Mb regions containing at least two of these markers were detected. Of those, three regions have one or more markers among the 20 most strongly associated: chromosomes 3q25, 6p21.3 (the MHC region) and 19q13. 相似文献
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Martins Silva B Thorlacius T Benediktsson K Pereira C Fossdal R Jonsson HH Silva A Leite I Cerqueira J Costa PP Marta M Foltynie T Sawcer S Compston A Jonasdottir A 《Journal of neuroimmunology》2003,143(1-2):116-119
Genetic factors are known to influence susceptibility to multiple sclerosis (MS) but the genes involved are largely undefined. Here, we report an association study based on 200 patients and 200 controls from the Porto region in Portugal. A total of 3974 markers were successfully typed from which we have identified 46 markers showing evidence of association. When compared to a physical map three regions were found with two of these markers less than 1.5 Mb apart: chromosomes 6p21.3 (the MHC region), 6q14.1 and 7q34. 相似文献
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Harbo HF Ekstrøm PO Lorentzen AR Sundvold-Gjerstad V Celius EG Sawcer S Spurkland A 《Journal of neuroimmunology》2006,177(1-2):40-45
We systematically assessed 53 genes involved in T cell signaling, among which 72 SNPs in 32 genes were reported in databases as causing non-synonymous amino acid substitutions. Screening of 41 of these SNPs in DNA pools from 4000 Norwegian controls showed that only 12 SNPs (29%) were polymorphic. These were tested for association to MS in DNA pools from 364 Norwegian MS patients. To eliminate sources of variance introduced by DNA pooling, the SNPs in the best-ranked PLCG1 as well as the PTPN22 gene were thereafter genotyped in individual MS and control samples, however, without finding evidence for association to MS. 相似文献
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