Genetic Testing
Full Project 1: Testing the Efficacy of an eHealth Decision Support Tool to Help Cancer Patients Make Informed Decisions About Tumor Genomic Testing
The primary goal of this study is to evaluate the efficacy of an electronic health (eHealth) decision support tool (DST) to improve informed decision making among patients of the institutional catchment area. This proposal builds on current RCT results of testing an eHealth DST called Gene Pilot and formative work with catchment area patients funded by the pilot mechanism of the current U54 Partnership.
Project Co-Leaders:
- Michael J. Hall, MD, MS, FASCO
Chair, Department of Clinical Genetics
Professor, Department of Clinical Genetics
Director, Gastrointestinal Risk Assessment
Fox Chase Cancer Center, Temple Health - Sarah Bass, PhD
College of Public Health
Social and Behavioral Sciences
Temple University - Tracey Revenson, PhD
Social Psychology and Health Psychology
Hunter College
Colon Cancer
Full Project 2: Unusual DNA methylation phenotype in Colorectal Cancer
Colorectal cancer (CRC) can be prevented and treated by routine colonoscopy screenings, but current non-invasive screening tools, such as fecal occult blood tests (FOBT) or fecal DNA markers, detect cancer after it occurs. More effective tools for prevention and treatment, such as colonoscopy or endoscopy, are invasive and less popular. Therefore, identification of early and objective biomarkers that distinguish normal colon mucosa of individuals at high risk for CRC from individuals at low risk might improve CRC diagnostic and outcomes. In our previous U54 Pilot project (Cycle 1), we have identified a subgroup of patients having highly disrupted epigenomes displaying abnormal DNA methylation patterns in their normal mucosa, identified as “Outlier Methylation Phenotype” (OMP). We have been able to significantly associate this phenotype with CRC patients over healthy controls. In the current cycle, our goal is to determine the prevalence of OMPs in a larger group of patients from local populations in institutional catchment areas. We will also determine whether OMP-affected genes in CRC patients are enriched in Ancestry-informative genetic variants and determine whether environmental factors and social determinants influence the frequency of OMP in most negatively affected individuals.
Project Co-Leaders:
- Carmen Sapienza, PhD
Professor, Department of Cancer and Cellular Biology and Department of Pathology and Laboratory Medicine
Professor, Fels Cancer Institute for Personalized Medicine
Fox Chase Cancer Center, Temple Health
Lewis Katz School of Medicine, Temple University - Jayashri Ghosh, PhD
Assistant Professor, Fels Cancer Institute for Personalized Medicine
Lewis Katz School of Medicine, Temple University - Frida Kleiman, PhD
Professor, Department of Chemistry
Hunter College
Breast Cancer
Pilot Project: Evaluating Breast Cancer Patient Populations for Therapeutic Targeting of Aberrant p53, MDM2, MDMX, and PARP signaling
This study directly addresses persistent issues that have limited biological research on the causes of triple negative breast cancer (TNBC) and seeks to identify potential therapeutic targets focused on biomarkers such as mtp53/MDM2/MDMX/PARP. The primary goal of this project is to determine if PARP inhibitor (PARPi) therapeutics can be expanded, beyond the mutant BRCA1 individuals, to individuals with mtp53/MDM2/MDMX/PARP biomarkers. Findings of the study may help individuals experiencing high rates of TNBC about breast cancer biomarkers to address biomarker-based questions during diagnosis and treatment.
Project Co-Leaders:
- Denise Connolly, PhD
Associate Professor
Director, Biosample Repository Facility
Fox Chase Cancer Center, Temple University - Jill Bargonetti, PhD
Professor, Department of Biological Sciences
Hunter College