Marissa S. Ellingson
A5051084939- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Prostate Cancer Treatment and Research
- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- BRCA gene mutations in cancer
- Genetics, Bioinformatics, and Biomedical Research
- Cancer-related gene regulation
- Cancer Cells and Metastasis
- Health and Medical Research Impacts
- Peroxisome Proliferator-Activated Receptors
- Innovative Teaching Methods
- Cancer-related molecular mechanisms research
- Tracheal and airway disorders
- Computational Drug Discovery Methods
- Breast Cancer Treatment Studies
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- CRISPR and Genetic Engineering
- Peptidase Inhibition and Analysis
- Esophageal and GI Pathology
- Pharmacogenetics and Drug Metabolism
- PARP inhibition in cancer therapy
- Cancer, Lipids, and Metabolism
Mayo Clinic
2014-2025
Mayo Clinic in Arizona
2016-2021
Jacksonville College
2016
Mayo Clinic in Florida
2016
BackgroundGenomic aberrations have been identified in metastatic castration-resistant prostate cancer (mCRPC), but molecular predictors of resistance to abiraterone acetate/prednisone (AA/P) treatment are not known.Patients and methodsIn a prospective clinical trial, mCRPC patients underwent whole-exome sequencing (n = 82) RNA 75) biopsies before initiating AA/P with the objective identifying genomic alterations associated AA/P. Primary was determined at 12 weeks using criteria for...
Background: Breast cancer patients with residual disease after neoadjuvant chemotherapy (NAC) have increased recurrence risk. Molecular characterization, knowledge of NAC response, and simultaneous generation patient-derived xenografts (PDXs) may accelerate drug development. However, the feasibility this approach is unknown. Methods: We conducted a prospective study 140 breast treated performed tumor germline sequencing generated using core needle biopsies. Chemotherapy response was assessed...
Pathogenic variants in the chromatin organizer CTCF were previously reported seven individuals with a neurodevelopmental disorder (NDD).Through international collaboration we collected data from 39 subjects CTCF. We performed transcriptome analysis on RNA blood samples and utilized Drosophila melanogaster to investigate impact of Ctcf dosage alteration nervous system development function.The our cohort carried 2 deletions, 8 likely gene-disruptive, splice-site, 20 different missense...
Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of uncertain significance necessitate additional efforts to establish causality before reaching a conclusive diagnosis. To provide comprehensive genomic testing disease, we established an Individualized Medicine Clinic, which offered clinical exome and included Translational Omics Program (TOP) that provided variant curation, research activities, or...
To determine the frequency of pathogenic inherited mutations in 157 select genes from patients with metastatic castrate-resistant prostate cancer (mCRPC).Observational.Multisite US-based cohort.Seventy-one adult male histological confirmation cancer, and had progressive disease while on androgen deprivation therapy.Twelve (17.4%) showed evidence carrying or likely germline variants ATM, ATR, BRCA2, FANCL, MSR1, MUTYH, RB1, TSHR WRN genes. All but one patient opted to receive clinically...
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes limited by the young age short follow-up many of previously reported cases, further delineation spectrum associated phenotypes is needed. We present 25 new patients with variants in refine NDD epilepsy phenotypes. were identified research or clinical exome sequencing, investigators from different centers connected via GeneMatcher. Most...
When sequencing blood and tumor samples to identify targetable somatic variants for cancer therapy, clinically relevant germline may be uncovered. We evaluated the prevalence of deleterious in susceptibility genes women with breast referred neoadjuvant chemotherapy returned actionable results patients. Exome was performed on from invasive chemotherapy. Germline within 142 hereditary were filtered reviewed pathogenicity. Return offered patients if they not aware their result through clinical...
Abstract Background We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas. Methods The underwent extensive genetic testing analysis in an attempt diagnose the cause of his condition. Clinical included metaphase karyotyping, array comparative genomic hybridization, direct sequencing multiplex ligation‐dependent probe amplification trio‐based exome sequencing. Subsequently,...
Abstract Over the past several decades, molecular genetic testing volumes have grown and has expanded from single‐gene assays to multigene panels, exome sequencing, genome sequencing. The number of variants that require manual interpretation simultaneously, resulting in an increased demand for education on variant evaluation (MVE). To meet this growing need, a team counselors educational experts undertook quality improvement (QI) initiative with objectives assessing, standardizing, scaling...