The Experts below are selected from a list of 333 Experts worldwide ranked by ideXlab platform
Helgi Birgisson - One of the best experts on this subject based on the ideXlab platform.
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gains of Chromosome 1p and 15q are associated with poor survival after cytoreductive surgery and hipec for treating colorectal peritoneal metastases
Annals of Surgical Oncology, 2019Co-Authors: Malin Enblad, Alexei Terman, Pascal Pucholt, Wilhelm Graf, Bjorn Viklund, Anders Isaksson, Helgi BirgissonAbstract:PURPOSE: Genetic alterations in colorectal peritoneal metastases (PM) are largely unknown. This study was designed to analyze whole-genome copy number alterations (CNA) in colorectal PM and to identify alterations associated with prognosis after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). METHODS: All patients with PM, originating from a colorectal adenocarcinoma, who were treated with CRS and HIPEC in Uppsala Sweden, between 2004 and 2015, were included (n = 114). DNA derived from formalin-fixed paraffin-embedded (FFPE) specimens were analyzed for CNA using molecular inversion probe arrays. RESULTS: There were extensive but varying degrees of CNA, ranging from minimal CNA to total aneuploidy. In particular, gain of parts of Chromosome 1p and major parts of 15q were associated with poor survival. A combination of gains of 1p and 15q was associated with poor survival, also after adjustment for differences in peritoneal cancer index and completeness of cytoreduction score [hazard ratio (HR) 5.96; 95% confidence interval (CI) 2.19-16.18]. These patients had a mean copy number (CN) of 3.19 compared with 2.24 in patients without gains. Complete CN analysis was performed in 53 patients. Analysis was unsuccessful for the remaining patients due to insufficient amounts of DNA and signals caused by interstitial components and normal cells. There was no difference in survival between patients with successful and unsuccessful CN analysis. CONCLUSIONS: This study shows that gains of parts of Chromosome 1p and of major parts of Chromosome 15q were significantly associated with poor survival after CRS and HIPEC, which could represent future prognostic biomarkers.
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gains of Chromosome 1p and 15q are associated with poor survival after cytoreductive surgery and hipec for treating colorectal peritoneal metastases
Annals of Surgical Oncology, 2019Co-Authors: Malin Enblad, Alexei Terman, Pascal Pucholt, Wilhelm Graf, Bjorn Viklund, Anders Isaksson, Helgi BirgissonAbstract:Genetic alterations in colorectal peritoneal metastases (PM) are largely unknown. This study was designed to analyze whole-genome copy number alterations (CNA) in colorectal PM and to identify alterations associated with prognosis after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). All patients with PM, originating from a colorectal adenocarcinoma, who were treated with CRS and HIPEC in Uppsala Sweden, between 2004 and 2015, were included (n = 114). DNA derived from formalin-fixed paraffin-embedded (FFPE) specimens were analyzed for CNA using molecular inversion probe arrays. There were extensive but varying degrees of CNA, ranging from minimal CNA to total aneuploidy. In particular, gain of parts of Chromosome 1p and major parts of 15q were associated with poor survival. A combination of gains of 1p and 15q was associated with poor survival, also after adjustment for differences in peritoneal cancer index and completeness of cytoreduction score [hazard ratio (HR) 5.96; 95% confidence interval (CI) 2.19–16.18]. These patients had a mean copy number (CN) of 3.19 compared with 2.24 in patients without gains. Complete CN analysis was performed in 53 patients. Analysis was unsuccessful for the remaining patients due to insufficient amounts of DNA and signals caused by interstitial components and normal cells. There was no difference in survival between patients with successful and unsuccessful CN analysis. This study shows that gains of parts of Chromosome 1p and of major parts of Chromosome 15q were significantly associated with poor survival after CRS and HIPEC, which could represent future prognostic biomarkers.
Malin Enblad - One of the best experts on this subject based on the ideXlab platform.
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gains of Chromosome 1p and 15q are associated with poor survival after cytoreductive surgery and hipec for treating colorectal peritoneal metastases
Annals of Surgical Oncology, 2019Co-Authors: Malin Enblad, Alexei Terman, Pascal Pucholt, Wilhelm Graf, Bjorn Viklund, Anders Isaksson, Helgi BirgissonAbstract:PURPOSE: Genetic alterations in colorectal peritoneal metastases (PM) are largely unknown. This study was designed to analyze whole-genome copy number alterations (CNA) in colorectal PM and to identify alterations associated with prognosis after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). METHODS: All patients with PM, originating from a colorectal adenocarcinoma, who were treated with CRS and HIPEC in Uppsala Sweden, between 2004 and 2015, were included (n = 114). DNA derived from formalin-fixed paraffin-embedded (FFPE) specimens were analyzed for CNA using molecular inversion probe arrays. RESULTS: There were extensive but varying degrees of CNA, ranging from minimal CNA to total aneuploidy. In particular, gain of parts of Chromosome 1p and major parts of 15q were associated with poor survival. A combination of gains of 1p and 15q was associated with poor survival, also after adjustment for differences in peritoneal cancer index and completeness of cytoreduction score [hazard ratio (HR) 5.96; 95% confidence interval (CI) 2.19-16.18]. These patients had a mean copy number (CN) of 3.19 compared with 2.24 in patients without gains. Complete CN analysis was performed in 53 patients. Analysis was unsuccessful for the remaining patients due to insufficient amounts of DNA and signals caused by interstitial components and normal cells. There was no difference in survival between patients with successful and unsuccessful CN analysis. CONCLUSIONS: This study shows that gains of parts of Chromosome 1p and of major parts of Chromosome 15q were significantly associated with poor survival after CRS and HIPEC, which could represent future prognostic biomarkers.
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gains of Chromosome 1p and 15q are associated with poor survival after cytoreductive surgery and hipec for treating colorectal peritoneal metastases
Annals of Surgical Oncology, 2019Co-Authors: Malin Enblad, Alexei Terman, Pascal Pucholt, Wilhelm Graf, Bjorn Viklund, Anders Isaksson, Helgi BirgissonAbstract:Genetic alterations in colorectal peritoneal metastases (PM) are largely unknown. This study was designed to analyze whole-genome copy number alterations (CNA) in colorectal PM and to identify alterations associated with prognosis after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). All patients with PM, originating from a colorectal adenocarcinoma, who were treated with CRS and HIPEC in Uppsala Sweden, between 2004 and 2015, were included (n = 114). DNA derived from formalin-fixed paraffin-embedded (FFPE) specimens were analyzed for CNA using molecular inversion probe arrays. There were extensive but varying degrees of CNA, ranging from minimal CNA to total aneuploidy. In particular, gain of parts of Chromosome 1p and major parts of 15q were associated with poor survival. A combination of gains of 1p and 15q was associated with poor survival, also after adjustment for differences in peritoneal cancer index and completeness of cytoreduction score [hazard ratio (HR) 5.96; 95% confidence interval (CI) 2.19–16.18]. These patients had a mean copy number (CN) of 3.19 compared with 2.24 in patients without gains. Complete CN analysis was performed in 53 patients. Analysis was unsuccessful for the remaining patients due to insufficient amounts of DNA and signals caused by interstitial components and normal cells. There was no difference in survival between patients with successful and unsuccessful CN analysis. This study shows that gains of parts of Chromosome 1p and of major parts of Chromosome 15q were significantly associated with poor survival after CRS and HIPEC, which could represent future prognostic biomarkers.
M Leppert - One of the best experts on this subject based on the ideXlab platform.
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hereditary spastic paraplegia linked to Chromosome 15q analysis of candidate genes
Neurology, 1996Co-Authors: John K Fink, Sandra M Jones, G B Sharp, Bernadette Lange, Brith Otterud, M LeppertAbstract:Hereditary spastic paraplegia (HSP; also known as familial spastic paraplegia and Strumpell-Lorrain syndrome) is a heterogeneous group of disorders that share the primary feature of progressive, severe, lower extremity weakness and spasticity (see reference 1 for review). Autosomal dominant uncomplicated HSP is genetically heterogeneous. The disorder has been linked to loci on Chromosomes 2p, 14q, and 15q in unrelated HSP kindreds. [2-4] Recently, we performed genetic linkage analysis in a kindred with autosomal dominant uncomplicated HSP. [5] Affected subjects developed progressive gait disturbance between ages 12 and 35 years and exhibited lower extremity hyperreflexia, spasticity, and weakness; extensor plantar response; diminished vibratory sense; and pes cavus. We found close linkage between the disorder and microsatellite polymorphisms on Chromosome 15q (e.g., D15S128 LOD equals 9.70, theta equals 0.05). [4] Multipoint linkage analysis reached a maximum LOD score (10.16) between D15S128 and D15S156, a region that includes genes encoding alpha 5 and beta 3 subunits of GABAA receptor. GABA receptors are important mediators of inhibitory neurotransmission in brain and spinal cord. In theory, abnormal GABA-mediated neurotransmission could produce spasticity and possibly other changes of HSP. There is precedent for GABA-neuron involvement in neurologic disease. For example, selective loss of intrastriatal GABA-ergic medium spiny neurons is one of the earliest changes of Huntington's chorea. In addition, we are aware of one example in which a GABA receptor gene mutation …
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autosomal dominant familial spastic paraplegia tight linkage to Chromosome 15q
American Journal of Human Genetics, 1995Co-Authors: John K Fink, Sandra M Jones, G B Sharp, Bernadette Lange, A Lesicki, T Reinglass, T Varvil, Brith Otterud, M LeppertAbstract:Abstract Autosomal dominant, uncomplicated familial spastic paraplegia (FSP) is a genetically heterogeneous disorder characterized by insidiously progressive lower-extremity spasticity. Recently, a locus on Chromosome 14q was shown to be tightly linked with the disorder in one of three families. We performed linkage analysis in a kindred with autosomal dominant uncomplicated FSP. After excluding the Chromosome 14q locus, we observed tight linkage of the disorder to a group of markers on Chromosome 15q (maximum two-point lod score 9.70; theta = .05). Our results clearly establish the existence of a locus for autosomal dominant FSP in the centromeric region of Chromosome 15q. Comparing clinical and genetic features in FSP families linked to Chromosome 14q with those linked to Chromosome 15q may provide insight into the pathophysiology of this disorder.
Alexei Terman - One of the best experts on this subject based on the ideXlab platform.
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gains of Chromosome 1p and 15q are associated with poor survival after cytoreductive surgery and hipec for treating colorectal peritoneal metastases
Annals of Surgical Oncology, 2019Co-Authors: Malin Enblad, Alexei Terman, Pascal Pucholt, Wilhelm Graf, Bjorn Viklund, Anders Isaksson, Helgi BirgissonAbstract:PURPOSE: Genetic alterations in colorectal peritoneal metastases (PM) are largely unknown. This study was designed to analyze whole-genome copy number alterations (CNA) in colorectal PM and to identify alterations associated with prognosis after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). METHODS: All patients with PM, originating from a colorectal adenocarcinoma, who were treated with CRS and HIPEC in Uppsala Sweden, between 2004 and 2015, were included (n = 114). DNA derived from formalin-fixed paraffin-embedded (FFPE) specimens were analyzed for CNA using molecular inversion probe arrays. RESULTS: There were extensive but varying degrees of CNA, ranging from minimal CNA to total aneuploidy. In particular, gain of parts of Chromosome 1p and major parts of 15q were associated with poor survival. A combination of gains of 1p and 15q was associated with poor survival, also after adjustment for differences in peritoneal cancer index and completeness of cytoreduction score [hazard ratio (HR) 5.96; 95% confidence interval (CI) 2.19-16.18]. These patients had a mean copy number (CN) of 3.19 compared with 2.24 in patients without gains. Complete CN analysis was performed in 53 patients. Analysis was unsuccessful for the remaining patients due to insufficient amounts of DNA and signals caused by interstitial components and normal cells. There was no difference in survival between patients with successful and unsuccessful CN analysis. CONCLUSIONS: This study shows that gains of parts of Chromosome 1p and of major parts of Chromosome 15q were significantly associated with poor survival after CRS and HIPEC, which could represent future prognostic biomarkers.
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gains of Chromosome 1p and 15q are associated with poor survival after cytoreductive surgery and hipec for treating colorectal peritoneal metastases
Annals of Surgical Oncology, 2019Co-Authors: Malin Enblad, Alexei Terman, Pascal Pucholt, Wilhelm Graf, Bjorn Viklund, Anders Isaksson, Helgi BirgissonAbstract:Genetic alterations in colorectal peritoneal metastases (PM) are largely unknown. This study was designed to analyze whole-genome copy number alterations (CNA) in colorectal PM and to identify alterations associated with prognosis after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). All patients with PM, originating from a colorectal adenocarcinoma, who were treated with CRS and HIPEC in Uppsala Sweden, between 2004 and 2015, were included (n = 114). DNA derived from formalin-fixed paraffin-embedded (FFPE) specimens were analyzed for CNA using molecular inversion probe arrays. There were extensive but varying degrees of CNA, ranging from minimal CNA to total aneuploidy. In particular, gain of parts of Chromosome 1p and major parts of 15q were associated with poor survival. A combination of gains of 1p and 15q was associated with poor survival, also after adjustment for differences in peritoneal cancer index and completeness of cytoreduction score [hazard ratio (HR) 5.96; 95% confidence interval (CI) 2.19–16.18]. These patients had a mean copy number (CN) of 3.19 compared with 2.24 in patients without gains. Complete CN analysis was performed in 53 patients. Analysis was unsuccessful for the remaining patients due to insufficient amounts of DNA and signals caused by interstitial components and normal cells. There was no difference in survival between patients with successful and unsuccessful CN analysis. This study shows that gains of parts of Chromosome 1p and of major parts of Chromosome 15q were significantly associated with poor survival after CRS and HIPEC, which could represent future prognostic biomarkers.
Anders Isaksson - One of the best experts on this subject based on the ideXlab platform.
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gains of Chromosome 1p and 15q are associated with poor survival after cytoreductive surgery and hipec for treating colorectal peritoneal metastases
Annals of Surgical Oncology, 2019Co-Authors: Malin Enblad, Alexei Terman, Pascal Pucholt, Wilhelm Graf, Bjorn Viklund, Anders Isaksson, Helgi BirgissonAbstract:PURPOSE: Genetic alterations in colorectal peritoneal metastases (PM) are largely unknown. This study was designed to analyze whole-genome copy number alterations (CNA) in colorectal PM and to identify alterations associated with prognosis after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). METHODS: All patients with PM, originating from a colorectal adenocarcinoma, who were treated with CRS and HIPEC in Uppsala Sweden, between 2004 and 2015, were included (n = 114). DNA derived from formalin-fixed paraffin-embedded (FFPE) specimens were analyzed for CNA using molecular inversion probe arrays. RESULTS: There were extensive but varying degrees of CNA, ranging from minimal CNA to total aneuploidy. In particular, gain of parts of Chromosome 1p and major parts of 15q were associated with poor survival. A combination of gains of 1p and 15q was associated with poor survival, also after adjustment for differences in peritoneal cancer index and completeness of cytoreduction score [hazard ratio (HR) 5.96; 95% confidence interval (CI) 2.19-16.18]. These patients had a mean copy number (CN) of 3.19 compared with 2.24 in patients without gains. Complete CN analysis was performed in 53 patients. Analysis was unsuccessful for the remaining patients due to insufficient amounts of DNA and signals caused by interstitial components and normal cells. There was no difference in survival between patients with successful and unsuccessful CN analysis. CONCLUSIONS: This study shows that gains of parts of Chromosome 1p and of major parts of Chromosome 15q were significantly associated with poor survival after CRS and HIPEC, which could represent future prognostic biomarkers.
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gains of Chromosome 1p and 15q are associated with poor survival after cytoreductive surgery and hipec for treating colorectal peritoneal metastases
Annals of Surgical Oncology, 2019Co-Authors: Malin Enblad, Alexei Terman, Pascal Pucholt, Wilhelm Graf, Bjorn Viklund, Anders Isaksson, Helgi BirgissonAbstract:Genetic alterations in colorectal peritoneal metastases (PM) are largely unknown. This study was designed to analyze whole-genome copy number alterations (CNA) in colorectal PM and to identify alterations associated with prognosis after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). All patients with PM, originating from a colorectal adenocarcinoma, who were treated with CRS and HIPEC in Uppsala Sweden, between 2004 and 2015, were included (n = 114). DNA derived from formalin-fixed paraffin-embedded (FFPE) specimens were analyzed for CNA using molecular inversion probe arrays. There were extensive but varying degrees of CNA, ranging from minimal CNA to total aneuploidy. In particular, gain of parts of Chromosome 1p and major parts of 15q were associated with poor survival. A combination of gains of 1p and 15q was associated with poor survival, also after adjustment for differences in peritoneal cancer index and completeness of cytoreduction score [hazard ratio (HR) 5.96; 95% confidence interval (CI) 2.19–16.18]. These patients had a mean copy number (CN) of 3.19 compared with 2.24 in patients without gains. Complete CN analysis was performed in 53 patients. Analysis was unsuccessful for the remaining patients due to insufficient amounts of DNA and signals caused by interstitial components and normal cells. There was no difference in survival between patients with successful and unsuccessful CN analysis. This study shows that gains of parts of Chromosome 1p and of major parts of Chromosome 15q were significantly associated with poor survival after CRS and HIPEC, which could represent future prognostic biomarkers.