The Experts below are selected from a list of 61329 Experts worldwide ranked by ideXlab platform
Paul J Van Diest - One of the best experts on this subject based on the ideXlab platform.
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molecular profiling of invasive breast cancer by multiplex ligation dependent probe amplification based Copy Number Analysis of tumor suppressor and oncogenes
Modern Pathology, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Hanneke N Monsuur, Raymon Vijzelaar, Paul J Van DiestAbstract:Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based Copy Number Analysis of tumor suppressor and oncogenes
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molecular profiling of invasive breast cancer by multiplex ligation dependent probe amplification based Copy Number Analysis of tumor suppressor and oncogenes
Modern Pathology, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Hanneke N Monsuur, Raymon Vijzelaar, Paul J Van DiestAbstract:Several oncogenes and tumor-suppressor genes have been shown to be implicated in the development, progression and response to therapy of invasive breast cancer. The phenotypic uniqueness (and thus the heterogeneity of clinical behavior) among patients’ tumors may be traceable to the underlying variation in gene Copy Number of these genes. To obtain a more complete view of gene Copy Number changes and their relation to phenotype, we analyzed 20 breast cancer-related genes in 104 invasive breast cancers with the use of multiplex ligation-dependent probe amplification (MLPA). We identified MYC gene amplification in 48% of patients, PRDM14 in 34%, topoisomerase IIα (TOP2A) in 32%, ADAM9 in 32%, HER2 in 28%, cyclin D1 (CCND1) in 26%, EMSY in 25%, IKBKB in 21%, AURKA in 17%, FGFR1 in 17%, estrogen receptor alpha (ESR1) in 16%, CCNE1 in 12% and EGFR in 9% of patients. There was a significant correlation between the Number of amplified genes and the histological grade and mitotic index of the tumor. Gene amplifications of EGFR, CCNE1 and HER2 were negatively associated with estrogen receptor status whereas FGFR1, ADAM9, IKBKB and TOP2A revealed a positive association. Amplifications of ESR1, PRDM14, MYC and HER2 were associated with a high mitotic index, and PRDM14 and HER2 amplifications with high histological grade. MYC amplification was detected more frequently in ductal tumors and high-level MYC amplifications were significantly associated with large tumor size. HER2/MYC, HER2/CCNE1 and EGFR/MYC co-amplified tumors were significantly larger than tumors with either of these amplifications. Gene loss occurred most frequently in E-cadherin (CDH1) (20%) and FGFR1 (10%). In conclusion, MLPA Analysis with this ‘breast cancer kit’ allowed to simultaneously assess Copy Numbers of 20 important breast cancer genes, providing an overview of the most frequent (co)amplifications as well as interesting phenotypic correlations, and thereby data on the potential importance of these genes in breast cancer.
Cathy B. Moelans - One of the best experts on this subject based on the ideXlab platform.
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molecular profiling of invasive breast cancer by multiplex ligation dependent probe amplification based Copy Number Analysis of tumor suppressor and oncogenes
Modern Pathology, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Hanneke N Monsuur, Raymon Vijzelaar, Paul J Van DiestAbstract:Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based Copy Number Analysis of tumor suppressor and oncogenes
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molecular profiling of invasive breast cancer by multiplex ligation dependent probe amplification based Copy Number Analysis of tumor suppressor and oncogenes
Modern Pathology, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Hanneke N Monsuur, Raymon Vijzelaar, Paul J Van DiestAbstract:Several oncogenes and tumor-suppressor genes have been shown to be implicated in the development, progression and response to therapy of invasive breast cancer. The phenotypic uniqueness (and thus the heterogeneity of clinical behavior) among patients’ tumors may be traceable to the underlying variation in gene Copy Number of these genes. To obtain a more complete view of gene Copy Number changes and their relation to phenotype, we analyzed 20 breast cancer-related genes in 104 invasive breast cancers with the use of multiplex ligation-dependent probe amplification (MLPA). We identified MYC gene amplification in 48% of patients, PRDM14 in 34%, topoisomerase IIα (TOP2A) in 32%, ADAM9 in 32%, HER2 in 28%, cyclin D1 (CCND1) in 26%, EMSY in 25%, IKBKB in 21%, AURKA in 17%, FGFR1 in 17%, estrogen receptor alpha (ESR1) in 16%, CCNE1 in 12% and EGFR in 9% of patients. There was a significant correlation between the Number of amplified genes and the histological grade and mitotic index of the tumor. Gene amplifications of EGFR, CCNE1 and HER2 were negatively associated with estrogen receptor status whereas FGFR1, ADAM9, IKBKB and TOP2A revealed a positive association. Amplifications of ESR1, PRDM14, MYC and HER2 were associated with a high mitotic index, and PRDM14 and HER2 amplifications with high histological grade. MYC amplification was detected more frequently in ductal tumors and high-level MYC amplifications were significantly associated with large tumor size. HER2/MYC, HER2/CCNE1 and EGFR/MYC co-amplified tumors were significantly larger than tumors with either of these amplifications. Gene loss occurred most frequently in E-cadherin (CDH1) (20%) and FGFR1 (10%). In conclusion, MLPA Analysis with this ‘breast cancer kit’ allowed to simultaneously assess Copy Numbers of 20 important breast cancer genes, providing an overview of the most frequent (co)amplifications as well as interesting phenotypic correlations, and thereby data on the potential importance of these genes in breast cancer.
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absence of chromosome 17 polysomy in breast cancer Analysis by cep17 chromogenic in situ hybridization and multiplex ligation dependent probe amplification
Breast Cancer Research and Treatment, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Paul J. Van DiestAbstract:Amplification of the HER2 gene, present in 15–30% of breast carcinomas, correlates with poor outcome and is an indication for treatment with trastuzumab. Standard testing methods for HER2 amplification are fluorescence (FISH) or chromogenic in situ hybridization (CISH). In FISH/CISH scoring, correction for chromosome 17 polysomy is believed to be critical for determination of true HER2 amplification as opposed to increased chromosome 17 Copy Number. The term “polysomy 17” is widely used and defined as ≥3 copies of the chromosome 17 centromere (probe CEP17, D17Z1). Thus, the centromere is assumed to be representative for the entire chromosome. This study aimed to investigate the frequency of polysomy 17 and its association with HER2 amplification in 111 invasive breast cancer patients by CEP17 CISH and by Copy Number Analysis of a set of 17 genes along chromosome 17 using multiplex ligation-dependent probe amplification (MLPA).
Roel A. De Weger - One of the best experts on this subject based on the ideXlab platform.
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molecular profiling of invasive breast cancer by multiplex ligation dependent probe amplification based Copy Number Analysis of tumor suppressor and oncogenes
Modern Pathology, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Hanneke N Monsuur, Raymon Vijzelaar, Paul J Van DiestAbstract:Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based Copy Number Analysis of tumor suppressor and oncogenes
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molecular profiling of invasive breast cancer by multiplex ligation dependent probe amplification based Copy Number Analysis of tumor suppressor and oncogenes
Modern Pathology, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Hanneke N Monsuur, Raymon Vijzelaar, Paul J Van DiestAbstract:Several oncogenes and tumor-suppressor genes have been shown to be implicated in the development, progression and response to therapy of invasive breast cancer. The phenotypic uniqueness (and thus the heterogeneity of clinical behavior) among patients’ tumors may be traceable to the underlying variation in gene Copy Number of these genes. To obtain a more complete view of gene Copy Number changes and their relation to phenotype, we analyzed 20 breast cancer-related genes in 104 invasive breast cancers with the use of multiplex ligation-dependent probe amplification (MLPA). We identified MYC gene amplification in 48% of patients, PRDM14 in 34%, topoisomerase IIα (TOP2A) in 32%, ADAM9 in 32%, HER2 in 28%, cyclin D1 (CCND1) in 26%, EMSY in 25%, IKBKB in 21%, AURKA in 17%, FGFR1 in 17%, estrogen receptor alpha (ESR1) in 16%, CCNE1 in 12% and EGFR in 9% of patients. There was a significant correlation between the Number of amplified genes and the histological grade and mitotic index of the tumor. Gene amplifications of EGFR, CCNE1 and HER2 were negatively associated with estrogen receptor status whereas FGFR1, ADAM9, IKBKB and TOP2A revealed a positive association. Amplifications of ESR1, PRDM14, MYC and HER2 were associated with a high mitotic index, and PRDM14 and HER2 amplifications with high histological grade. MYC amplification was detected more frequently in ductal tumors and high-level MYC amplifications were significantly associated with large tumor size. HER2/MYC, HER2/CCNE1 and EGFR/MYC co-amplified tumors were significantly larger than tumors with either of these amplifications. Gene loss occurred most frequently in E-cadherin (CDH1) (20%) and FGFR1 (10%). In conclusion, MLPA Analysis with this ‘breast cancer kit’ allowed to simultaneously assess Copy Numbers of 20 important breast cancer genes, providing an overview of the most frequent (co)amplifications as well as interesting phenotypic correlations, and thereby data on the potential importance of these genes in breast cancer.
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absence of chromosome 17 polysomy in breast cancer Analysis by cep17 chromogenic in situ hybridization and multiplex ligation dependent probe amplification
Breast Cancer Research and Treatment, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Paul J. Van DiestAbstract:Amplification of the HER2 gene, present in 15–30% of breast carcinomas, correlates with poor outcome and is an indication for treatment with trastuzumab. Standard testing methods for HER2 amplification are fluorescence (FISH) or chromogenic in situ hybridization (CISH). In FISH/CISH scoring, correction for chromosome 17 polysomy is believed to be critical for determination of true HER2 amplification as opposed to increased chromosome 17 Copy Number. The term “polysomy 17” is widely used and defined as ≥3 copies of the chromosome 17 centromere (probe CEP17, D17Z1). Thus, the centromere is assumed to be representative for the entire chromosome. This study aimed to investigate the frequency of polysomy 17 and its association with HER2 amplification in 111 invasive breast cancer patients by CEP17 CISH and by Copy Number Analysis of a set of 17 genes along chromosome 17 using multiplex ligation-dependent probe amplification (MLPA).
Ben Davidson - One of the best experts on this subject based on the ideXlab platform.
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Genomewide Copy Number Analysis of Müllerian adenosarcoma identified chromosomal instability in the aggressive subgroup
Modern Pathology, 2016Co-Authors: Jen-chieh Lee, Chun A Changou, Cher-wei Liang, Hsien-neng Huang, Alexandra Lauria, Hsuan-ying Huang, Chin-yao Lin, Ying-cheng Chiang, Ben Davidson, Ming-chieh LinAbstract:Müllerian adenosarcomas are malignant gynecologic neoplasms. Advanced staging and sarcomatous overgrowth predict poor prognosis. Because the genomic landscape remains poorly understood, we conducted this study to characterize the genomewide Copy Number variations in adenosarcomas. Sixteen tumors, including eight with and eight without sarcomatous overgrowth, were subjected to a molecular inversion probe array Analysis. Copy Number variations, particularly losses, were significantly higher in cases with sarcomatous overgrowth. Frequent gains of chromosomal 12q were noted, often involving cancer-associated genes CDK4 (six cases), MDM2, CPM, YEATS4 , DDIT3 , GLI1 (five each), HMGA2 and STAT6 (four), without association with sarcomatous overgrowth status. The most frequent losses involved chromosomes 13q (five cases), 9p, 16q and 17q (four cases each) and were almost limited to cases with sarcomatous overgrowth. MDM2 and CDK4 amplification, as well as losses of RB1 (observed in two cases) and CDKN2A/B (one case), was verified by FISH. By immunohistochemistry, all MDM2/CDK4 -coamplified cases were confirmed to overexpress both encoded proteins, whereas all four cases with (plus an additional four without) gain of HMGA2 overexpressed the HMGA2 protein. Both cases with RB1 loss were negative for the immunostaining of the encoded protein. Chromothripsis-like Copy Number profiles involving chromosome 12 or 14 were observed in three fatal cases, all of which harbored sarcomatous overgrowth. With whole chromosome painting and deconvolution fluorescent microsCopy, dividing tumor cells in all three cases were shown to have scattered extrachromosomal materials derived from chromosomes involved by chromothripsis, suggesting that this phenomenon may serve as visual evidence for chromothripsis in paraffin tissue. In conclusion, we identified frequent chromosome 12q amplifications, including loci containing potential pharmacological targets. Global chromosomal instability and chromothripsis were more frequent in cases with sarcomatous overgrowth. To our knowledge, this is the first time that evidence of chromothripsis has been demonstrated in paraffin-embedded clinical tissues and in adenosarcomas.
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genomewide Copy Number Analysis of mullerian adenosarcoma identified chromosomal instability in the aggressive subgroup
Modern Pathology, 2016Co-Authors: Tzupin Lu, Chun A Changou, Cher-wei Liang, Hsien-neng Huang, Alexandra Lauria, Hsuan-ying Huang, Ying-cheng Chiang, Ben DavidsonAbstract:Genomewide Copy Number Analysis of Mullerian adenosarcoma identified chromosomal instability in the aggressive subgroup
Raymon Vijzelaar - One of the best experts on this subject based on the ideXlab platform.
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molecular profiling of invasive breast cancer by multiplex ligation dependent probe amplification based Copy Number Analysis of tumor suppressor and oncogenes
Modern Pathology, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Hanneke N Monsuur, Raymon Vijzelaar, Paul J Van DiestAbstract:Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based Copy Number Analysis of tumor suppressor and oncogenes
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molecular profiling of invasive breast cancer by multiplex ligation dependent probe amplification based Copy Number Analysis of tumor suppressor and oncogenes
Modern Pathology, 2010Co-Authors: Cathy B. Moelans, Roel A. De Weger, Hanneke N Monsuur, Raymon Vijzelaar, Paul J Van DiestAbstract:Several oncogenes and tumor-suppressor genes have been shown to be implicated in the development, progression and response to therapy of invasive breast cancer. The phenotypic uniqueness (and thus the heterogeneity of clinical behavior) among patients’ tumors may be traceable to the underlying variation in gene Copy Number of these genes. To obtain a more complete view of gene Copy Number changes and their relation to phenotype, we analyzed 20 breast cancer-related genes in 104 invasive breast cancers with the use of multiplex ligation-dependent probe amplification (MLPA). We identified MYC gene amplification in 48% of patients, PRDM14 in 34%, topoisomerase IIα (TOP2A) in 32%, ADAM9 in 32%, HER2 in 28%, cyclin D1 (CCND1) in 26%, EMSY in 25%, IKBKB in 21%, AURKA in 17%, FGFR1 in 17%, estrogen receptor alpha (ESR1) in 16%, CCNE1 in 12% and EGFR in 9% of patients. There was a significant correlation between the Number of amplified genes and the histological grade and mitotic index of the tumor. Gene amplifications of EGFR, CCNE1 and HER2 were negatively associated with estrogen receptor status whereas FGFR1, ADAM9, IKBKB and TOP2A revealed a positive association. Amplifications of ESR1, PRDM14, MYC and HER2 were associated with a high mitotic index, and PRDM14 and HER2 amplifications with high histological grade. MYC amplification was detected more frequently in ductal tumors and high-level MYC amplifications were significantly associated with large tumor size. HER2/MYC, HER2/CCNE1 and EGFR/MYC co-amplified tumors were significantly larger than tumors with either of these amplifications. Gene loss occurred most frequently in E-cadherin (CDH1) (20%) and FGFR1 (10%). In conclusion, MLPA Analysis with this ‘breast cancer kit’ allowed to simultaneously assess Copy Numbers of 20 important breast cancer genes, providing an overview of the most frequent (co)amplifications as well as interesting phenotypic correlations, and thereby data on the potential importance of these genes in breast cancer.