A5047293123- BRCA gene mutations in cancer
- Prostate Cancer Treatment and Research
- Adrenal and Paraganglionic Tumors
- Pituitary Gland Disorders and Treatments
- Hormonal Regulation and Hypertension
- Cancer Genomics and Diagnostics
- Receptor Mechanisms and Signaling
- Epigenetics and DNA Methylation
- Health Systems, Economic Evaluations, Quality of Life
- Genetic factors in colorectal cancer
- Ethics in Clinical Research
- Eicosanoids and Hypertension Pharmacology
- PARP inhibition in cancer therapy
- Bladder and Urothelial Cancer Treatments
- Neurotransmitter Receptor Influence on Behavior
- Nutrition, Genetics, and Disease
- Cancer, Hypoxia, and Metabolism
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Pain Mechanisms and Treatments
- Renal cell carcinoma treatment
- Hormonal and reproductive studies
- Ion channel regulation and function
- Nitric Oxide and Endothelin Effects
- Economic and Financial Impacts of Cancer
Huntsman Cancer Institute
2017-2025
University of Utah
2017-2025
Southwestern Medical Center
2024-2025
The University of Texas Southwestern Medical Center
2023-2025
Lafayette College
2023
University of Michigan
2018-2019
University of Montana Western
2018
Louisiana State University
1995
Thomas Cole Historic House
1990
Newark Academy
1990
Inherited germline TP53 pathogenic and likely variants (gTP53) cause autosomal dominant multicancer predisposition including Li-Fraumeni syndrome (LFS). However, there is no known association of prostate cancer with gTP53.To determine whether gTP53 predisposes to cancer.This multi-institutional retrospective study characterizes incidence in a cohort LFS males prevalence cohort.We evaluated the spectrum clinical features associated cancer.We identified 31 cases among 163 adult males, 26 54...
Abstract In 2010, the National Society of Genetic Counselors (NSGC) membership was surveyed about their use genetic counseling service delivery models (SDMs) including in‐person, telephone, telegenetics, and group counseling. Since that time, demand for services has increased in United States (US). We hypothesized various SDMs to help address growing demand. To assess changes SDM interest implementing innovative SDMs, NSGC subcommittee sent an electronic survey ( N = 3,616), which open from...
<h3>Importance</h3> Malignant head and neck paragangliomas (HNPGLs) are rare entities, there limited data regarding optimal treatment recommendations to improve clinical outcomes. <h3>Objective</h3> To classify succinate dehydrogenase (<i>SDH</i>) germline mutations associated with malignant HNPGLs, evaluate time from diagnosis identification of tumor, describe locations metastases the functional status determine role selective dissection at initial surgical resection. <h3>Design, Setting,...
As demand for genetic services grows, innovative counseling service delivery models (SDMs) are needed. However, there is limited research on the barriers and needs of counselors (GCs) interested in implementing new SDMs into their practice. In fall 2017, National Society Genetic Counselors (NSGC) Access Service Delivery Committee's SDM Subcommittee sent an online survey to NSGC membership regarding use SDMs, which aimed update understanding current how this has changed over time. The...
Alcohol (EtOH) has been shown to suppress lipopolysaccharide (LPS)-induced nitric oxide (NO) generation and tumor necrosis factor (TNF) production in the lung vivo. We have previously reported that EtOH suppressed gene expression for inducible synthase (iNOS) with a subsequent decrease release of reactive nitrogen intermediates by alveolar macrophages recruited neutrophils. hypothesized similar mechanism may be involved EtOH-induced suppression LPS-stimulated TNF production. In contrast what...
Family history of bladder cancer confers an increased risk for concordant and discordant cancers in relatives. However, previous studies investigating this relationship lack any correction smoking status family members. We conducted a population-based study risks relatives patients matched controls with exclusion variant subtypes to improve the understanding familial clustering.Case subjects urothelial carcinoma were identified using Utah Cancer Registry 1:5 cancer-free from Population...
•TGP methods differ from those of designated germline genetic testing laboratories for identifying PVs.•PVs not reported by somatic may result in missed treatment opportunities.•Patients who meet the criteria evaluation should be referred to counselors regardless TGP results. BackgroundTumor genomic profiling (TGP) often incidentally identifies pathogenic variants (PVs) associated with cancer predisposition syndromes. Methods used laboratories, including analysis, that have optimized...
Personal cancer diagnosis and family history factor into which individuals should undergo genetic testing for hereditary breast ovarian (HBOC) syndrome. Family is often determined in the research setting through kindreds with disease clusters, or clinically from self-report. The population prevalence of diagnostic characteristics and/or meeting criteria HBOC unknown.Utilizing Surveillance, Epidemiology, End Results (SEER) registry data a resource linking records to genealogies, Utah...
The influence of cocaine on the responses superfused rat vas deferens to norepinephrine (NE), tyramine, Ba++, Ca++, K+ and transmural stimulation was examined. Enhanced vasa deferentia NE, were observed with doses (1, 3 10 µg/ml) which reduced tyramine. Tetrodotoxin (0.1 propranolol (1 did not affect cocaine-induced potentiation any agonist. Reserpine (5.0 mg/kg) 48 24 hours prior sacrifice bretylium (20 guanethidine antagonized K+, Ba++ Ca++. These antiadrenergic agents blocked tyramine but...
Abstract Background Guidelines have changed recently to include genetic counseling (GC) and/or testing (GT) for all men with aggressive prostate cancer (PCa). This study aimed identify what information PCa desire before and from GC. Methods Focus groups were conducted who PCa. Audio recordings analyzed themes related GT, the they desired health care providers, implications family members. Results Thirty‐seven participated in seven focus groups. Nearly felt GT was beneficial impactful their...
The goal of this study was to explore family medicine residents' experiences with abortion training and identify positive negative influences, facilitators barriers providing care.We conducted a qualitative recent graduates an urban residency in the Northeast United States opt-out curriculum. Individual recorded interviews were two classes graduated residents until data saturation reached. Data coded interpreted by both authors using template analysis method.Twenty completed interviews. Most...
Germline mutations in DNA repair (DR) genes and susceptibility CDKN2A HOXB13 have previously been associated with prostate cancer (PC) incidence and/or progression. However, the role prevalence of this class metastatic PC (mPC) are not fully understood.To evaluate frequency pathogenic/likely pathogenic germline variants (PVs/LPVs) men mPC, study sequenced 38 DR genes, CDKN2A, a predominantly white cohort 317 patients mPC. A registry at University Utah was used for patient sample acquisition...
Given the increasing demand for genetic counseling, implementation of innovative service delivery models (SDMs) has been proposed to improve access and increase efficiency counseling services. This study investigated key considerations in practices that impact decision implement SDMs, as well barriers facilitators implementation. A cross-sectional, qualitative research design was employed, using focus groups. Genetic counselors (GCs) were recruited from respondents an online survey about...
Abstract The effects of systemic racism persist in cancer care and contribute to disparities. Recent publications have shown that injustices biases continue affect the field genetic counseling form microaggressions, barriers entry, disparate patient care. Toolkits are one method can be used incorporate anti‐racist practices address this need. We sought identify current state coverage Justice, Equity, Diversity, Inclusion (JEDI) topics during genetics training across programs (GCTPs) utilize...
This commentary explores the complexities faced by clinicians when encountering a secondary
This study investigates a real-world multicenter cohort of patients with urinary tract cancer (UTC), primary disease sites including the bladder, urethra, and upper tract, who enrolled for research molecular testing their germline tumor. The purpose this was to evaluate factors that could affect likelihood identifying clinically actionable pathogenic variant (PV).
Although testosterone-induced reduction of catecholamine content and in vitro responsiveness isolated male accessory genital organs has been determined, the significance this effect altering results interpretation physiologic pharmacologic experiments utilizing not demonstrated. In study vasa deferentia were obtained from sexually mature guinea pigs (SM), immature (SI), SI administered testosterone (SIT) (5.0 mg/ kg/day i.p.) for eight days. The responses superfused to nicotinic stimulants,...
PURPOSE Germline likely pathogenic or variants (PVs) have been identified in up to 17% of men with prostate cancer (PC) and may drive disease severity be targetable by novel therapies. National Comprehensive Cancer Network (NCCN) guidelines encouraging germline testing metastatic PC were recently expanded include all high-risk, very regional PC. Our aim was assess the impact NCCN on detection rate PVs determine patient-level factors associated a PV result. PATIENTS AND METHODS Men underwent...
Objective Characterize the natural history and clinical behavior of head neck paragangliomas (HNPGLs) in subjects with succinate dehydrogenase ( SDHx ) pathogenic variants using volumetric tumor measurements. Study Design Cohort study. Setting Tertiary academic referral center. Patients Subjects HNPGLs under observation for at least 6 months 2 or more magnetic resonance imaging computed tomography scans. Intervention(s) Diagnostic interventions include next-generation sequencing, imaging,...
The contractile and pressor responses of isolated, superfused seminal vesicles to angiotensin (10-20 µg), barium chloride (1-4 mg), tyramine (100-200 epinephrine (E; 10-20 µg) norepinephrine (NE; were reduced or absent in organs obtained from guinea pigs treated with testosterone (10 mg/kg/day for eight days i.p.) as compared peanut oil (1.0 ml/kg/day controls. NE E content the was determined by fluorometric assay trihydroxyindole method; adrenergic innervation studied fluorescence...