A5091267718- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Plant Genetic and Mutation Studies
- DNA and Nucleic Acid Chemistry
- Bariatric Surgery and Outcomes
- Genetics, Bioinformatics, and Biomedical Research
- Gene expression and cancer classification
- CRISPR and Genetic Engineering
- Diet and metabolism studies
- Genetic factors in colorectal cancer
- Evolution and Genetic Dynamics
- Gut microbiota and health
- Genomic variations and chromosomal abnormalities
- Liver Disease Diagnosis and Treatment
- RNA and protein synthesis mechanisms
- Advanced biosensing and bioanalysis techniques
- RNA modifications and cancer
- Bioinformatics and Genomic Networks
- Nutrition, Health and Food Behavior
- Zoonotic diseases and public health
- Quality and Safety in Healthcare
- Gastrointestinal motility and disorders
- Occupational and environmental lung diseases
- Diabetic Foot Ulcer Assessment and Management
- Clinical Nutrition and Gastroenterology
Fox Chase Cancer Center
2024
University College Dublin
2024
The University of Queensland
2019-2021
Princess Alexandra Hospital
2019-2021
Pulmonary and Critical Care Associates
2019
Queen Elizabeth II Jubilee Hospital
2015
Sir Charles Gairdner Hospital
2012
Women & Children's Hospital of Buffalo
1992
Abstract POLE driver mutations in the exonuclease domain (ExoD driver) are prevalent several cancers, including colorectal cancer and endometrial cancer, leading to dramatically ultra-high tumor mutation burden (TMB). To understand whether that not classified as drivers (POLE Variant) contribute mutagenesis, we assessed TMB 447 POLE-mutated ovarian cancers TMB-high ≥10 mutations/Mb (mut/Mb) or TMB-low <10 mut/Mb. was significantly highest tumors with “POLE ExoD plus Variant”...
<p><b>A,</b> mTMB comparisons in Group 2 and 3 tumors by ExoD driver alone [P286R, V411L, or other driver(s) combined] conjunction with <i>POLE</i> variants. Each filled round circle represents a tumor genomic profile; data are shown for the and/or plus variant. Data “other drivers” were combined because of lower numbers. The segregated MSS MSI status where relevant. A few statistical not performed ≤2 datapoints. <b>B,</b> increasing number analysis...
<p>Characterization of <i>POLE</i> mutations in the CLS and TCGA dataset. <b>A,</b> Flowchart analysis tree for colorectal cancer (CRC), endometrial (EC), ovarian (OC) tumors by mutations, TMB, MSI/MSS status. Among 1,870 cancer, 4,481 cancers, 8,910 tumor genomic profiles, a total 447 carried mutations. Clinically relevant TMB cut-off points were used to define TMB-H (≥10 mut/Mb) TMB-L (<10 cohorts. mutation cohorts along with status defined. variants but no...
<p>All Supplementary_Legends_Figures_and_most Tables</p>
<p>Molecular features of colorectal cancer (<b>A</b>) and endometrial (<b>B</b>). The mutational landscape patient demographic/clinical characteristics (PD-L1 by IHC, MSI comprehensive, age, sex) the four cohorts for each type were plotted using GenVisR package R.</p>
<p><b>A,</b> mTMB comparisons in Group 2 and 3 tumors by ExoD driver alone [P286R, V411L, or other driver(s) combined] conjunction with <i>POLE</i> variants. Each filled round circle represents a tumor genomic profile; data are shown for the and/or plus variant. Data “other drivers” were combined because of lower numbers. The segregated MSS MSI status where relevant. A few statistical not performed ≤2 datapoints. <b>B,</b> increasing number analysis...
<p>Molecular features of colorectal cancer (<b>A</b>) and endometrial (<b>B</b>). The mutational landscape patient demographic/clinical characteristics (PD-L1 by IHC, MSI comprehensive, age, sex) the four cohorts for each type were plotted using GenVisR package R.</p>
<p>Characterization of <i>POLE</i> mutations in the CLS and TCGA dataset. <b>A,</b> Flowchart analysis tree for colorectal cancer (CRC), endometrial (EC), ovarian (OC) tumors by mutations, TMB, MSI/MSS status. Among 1,870 cancer, 4,481 cancers, 8,910 tumor genomic profiles, a total 447 carried mutations. Clinically relevant TMB cut-off points were used to define TMB-H (≥10 mut/Mb) TMB-L (<10 cohorts. mutation cohorts along with status defined. variants but no...
<p><i>POLE</i> variant groups, patient clinical and demographic characteristics for the CARIS cohort</p>
<div>Abstract<p><i>POLE</i> driver mutations in the exonuclease domain (ExoD driver) are prevalent several cancers, including colorectal cancer and endometrial cancer, leading to dramatically ultra-high tumor mutation burden (TMB). To understand whether <i>POLE</i> that not classified as drivers (<i>POLE</i> Variant) contribute mutagenesis, we assessed TMB 447 <i>POLE</i>-mutated ovarian cancers TMB-high ≥10 mutations/Mb (mut/Mb) or...