A5044026187- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- PI3K/AKT/mTOR signaling in cancer
- Genomic variations and chromosomal abnormalities
- Prostate Cancer Treatment and Research
- Prenatal Screening and Diagnostics
- Fungal Plant Pathogen Control
- Insect Pheromone Research and Control
- Lung Cancer Treatments and Mutations
- Cancer Genomics and Diagnostics
- Adrenal and Paraganglionic Tumors
- Pituitary Gland Disorders and Treatments
- Colorectal Cancer Screening and Detection
- Cancer-related Molecular Pathways
- Psychology and Mental Health
- Genetically Modified Organisms Research
- Prostate Cancer Diagnosis and Treatment
- PARP inhibition in cancer therapy
- Glioma Diagnosis and Treatment
- Psychosomatic Disorders and Their Treatments
- Acute Myeloid Leukemia Research
- Immunodeficiency and Autoimmune Disorders
- Youth, Drugs, and Violence
- Chromatin Remodeling and Cancer
The University of Texas Southwestern Medical Center
2018-2024
Cancer Genetics (United States)
2019-2024
Harold C. Simmons Comprehensive Cancer Center
2018-2023
Exelixis (United States)
2023
Bristol-Myers Squibb (Germany)
2023
Southwestern Medical Center
2019-2022
Associação Brasileira de Saúde Coletiva
2017
University of Cincinnati
2013
The NCCN Guidelines for Prostate Cancer Early Detection provide recommendations individuals with a prostate who opt to participate in an early detection program after receiving the appropriate counseling on pros and cons. These Insights summary of recent updates regard testing protocol, use multiparametric MRI, management negative biopsy results optimize clinically significant cancer minimize indolent disease.
Germline genetic testing (GT) is recommended for men with prostate cancer (PC), but through traditional models limited. The ProGen study examined a novel model aimed at providing access to GT while promoting education and informed consent.
PURPOSE Patients with hereditary cancer syndromes face increased medical management recommendations to address their risks. As multigene panels are the standard of testing today, more patients needing clinical intervention being identified. This study calculates downstream revenue (DSR) generated by ascertained a genetic counselor (GC) likely pathogenic/pathogenic variant (LPV/PV). METHODS Retrospective chart review was performed for seen in high-volume genetics clinic between October 1,...
This case report presents the first known of a brainstem glioblastoma multiforme (GBM) in patient with neurofibromatosis type 1 (NF1). While research has proposed that larger germ-line mutations NF1 may be driving factor predisposes patients to high-grade astrocytomas, this had nonsense mutation gene, suggesting variant tumorigenesis. Limited data on targeted immunotherapy for GBM have been reported and more are required before therapies could proven as second-line treatment options.
Enhanced cancer risk reduction measures are recommended for patients with hereditary predispositions to cancer. Providing these services within a healthcare institution (HI) generates downstream revenue (DSR). We evaluated the DSR our after were identified have pathogenic variant by genetic counselor (GC).Retrospective chart review breast and ovarian (HBOC) Lynch syndrome (LS) seen in UT Southwestern Medical Center Cancer Genetics Clinic between November 1, 2009, January 31, 2019. All...
1507 Background: Approximately 10% of men with advanced prostate cancer (PC) have pathogenic/likely pathogenic variants (PV) in susceptibility genes and their identification may lead to targeted therapy. Genetic testing (GT) can also guide surveillance prevention for family members. While GT is recommended potentially lethal PC, traditional models are strained, access limited. The ProGen study examined a novel pretest model aimed at providing while promoting informed consent. Methods:...
Heritable lung cancer may occur in the context of germline TP53 mutations (Li-Fraumeni syndrome). Limited cases intrafamily tumor genomic characteristics have been reported.A 40-year-old woman with no smoking history or known environmental exposure risk was incidentally found to stage II (T2N1) NSCLC harboring an EGFR exon 19 p.Glu746_Ala750 deletion. Family notable for identical twin sister colorectal (diagnosed at age 31 y) and a mother I 21 c.2573T>G (p.Leu858Arg) mutation 69 y). Genetic...
10513 Background: Genetic testing for hereditary cancer syndromes has diagnostic, prognostic and therapeutic implications; however, variant(s) of uncertain significance (VUS) are not clinically actionable. As such, VUS a challenge to the entire medical community. Additionally, individuals from underrepresented race, ethnicity, ancestry (REA) groups disproportionately impacted by VUS. This study reports on prevalence in patients referred genetic results reclassification. Methods: Patients...
Abstract Background There are no national guidelines for the management of patients with a family history consistent Lynch syndrome (LS) but negative genetic test. To determine current practices, counselors’ (GCs) recommendations were assessed. Methods A survey GCs using five hypothetical pedigrees was posted to National Society Genetic Counselors (NSGC) discussion forums. Descriptive statistics used. Results One‐hundred and fifteen surveys completed. pedigree first‐degree relative (FDR)...
Leukemia-predisposing conditions, such as GATA2 haploinsufficiency, are known for their high penetrance and expressivity profiles. These disorders pose a difficult diagnostic challenge to even the most experienced clinician when they first present. We describe case of 17-year-old male presenting with features nontuberculous mycobacterial infection, pulmonary fibrinoid granulomatous vasculitis, myelodysplasia in setting pathogenic frameshift mutation confirmed by next-generation sequencing....
Abstract Discordant variant classifications (DVCs) can impact patient care and pose challenges for clinicians. A survey‐based study was conducted to examine genetic counselor (GC) attitudes practices related DVCs. Most GCs (202/229, 88%) in the provide direct across clinical specialties; review patients' test results determine if reported variants have DVCs (176/202, 88%); inform patients of known that medical management (165/202, 82%). DVC review, which takes 41 min (range: 5–240) on...
565 Background: Germline genetic testing (GT) is recommended for all patients (pts) with pancreatic cancer (PC). However, referral (GR) rates PC are low even at academic centers; there a paucity of literature safety-net hospitals (SNH) which often treat higher percentages cancers advanced stages. Providers focused on the challenging treatment and may not prioritize GT referrals. Technology can be adapted to aid in this process. Best practice alerts (BPA) built Electronic Medical Records...
Introduction The work describes the benefits of physical activities in patients with dual diagnosis a psychiatric clinic Rio de Janeiro city, Brazil. Objectives Present inside hospital space. Evaluate impact introduction regular activity practice having hospitalization environment. Aims Demonstrates decrease resistance to treatment regime, behavioral and social improvement patients, as well mental capacities wellness promotion during after treatment. Methods Forty-five carrying diagnosis,...
e13158 Background: Screening colonoscopies every 1-2 years are estimated to decrease the risk for colorectal cancer (CRC) development in individuals with Lynch syndrome (LS) by 62-72%. However, order reduction be effective, genetic testing guidelines must identify LS before they develop CRC. Current NCCN indications evaluation focus on who have already developed cancer. This study aims effectiveness of criteria identifying patients a develops. Methods: A retrospective chart review was...