A5006175736- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Ovarian cancer diagnosis and treatment
- Cancer Genomics and Diagnostics
- Adrenal and Paraganglionic Tumors
- Genetics, Bioinformatics, and Biomedical Research
- Molecular Biology Techniques and Applications
- PARP inhibition in cancer therapy
- DNA Repair Mechanisms
- COVID-19 and healthcare impacts
- Advanced Glycation End Products research
- Ethics and Legal Issues in Pediatric Healthcare
- Cancer, Hypoxia, and Metabolism
- Telemedicine and Telehealth Implementation
- Endoplasmic Reticulum Stress and Disease
- Cancer-related Molecular Pathways
- Ethics in medical practice
- Global Cancer Incidence and Screening
- Pituitary Gland Disorders and Treatments
- Diabetes and associated disorders
University of Nebraska Medical Center
2017-2023
Nebraska Medical Center
2002-2023
Susan Thompson Buffett Foundation
2020-2023
Fred and Pamela Buffett Cancer Center
2020-2023
Myriad (Germany)
2016
Pfizer (United Kingdom)
2016
Novartis (Ireland)
2016
Clovis Oncology (United States)
2016
Novartis (Switzerland)
2016
Otsuka (United States)
2016
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely variants associated with increased risk breast, ovarian, pancreatic cancer recommended approaches to genetic testing/counseling management strategies in individuals these variants. This manuscript focuses BRCA-related breast/ovarian syndrome Li-Fraumeni syndrome. Carriers a BRCA1/2 variant have an excessive both breast ovarian that warrants...
The NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations genetic testing counseling hereditary cancer syndromes risk management patients who are diagnosed with a syndrome. focus on associated an increased of breast and/or ovarian cancer. panel meets at least annually to review comments from reviewers within their institutions, examine relevant new data publications abstracts, reevaluate update recommendations....
All cancers develop as a result of mutations in certain genes, such those involved the regulation cell growth and/or DNA repair, 1,2 but not all these are inherited from parent.For example, sporadic can occur somatic/ tumor cells only, and de novo for first time germ (i.e., egg or sperm) fertilized itself during early embryogen-
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic provide recommendations genetic testing counseling hereditary cancer syndromes, risk management patients who are diagnosed with syndromes associated an increased of these cancers. panel meets at least annually to review comments, examine relevant new data, reevaluate update recommendations. These Insights summarize the panel’s discussion most recent regarding criteria high-penetrance genes breast...
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations genetic testing counseling risk assessment management hereditary cancer syndromes. focus on syndromes associated with an increased of breast and/or ovarian are intended to assist clinical shared decision-making. These Insights summarize major discussion points the 2015 panel meeting. Major topics this year included multigene testing, less common mutations, salpingectomy reduction. also...
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/likely pathogenic (P/LP) variants associated with increased risk breast, ovarian, pancreatic, prostate cancer, including BRCA1 , BRCA2 CDH1 PALB2 PTEN TP53 recommended approaches to genetic counseling/testing care strategies in individuals these P/LP variants. These Insights summarize important updates regarding: (1) a new section transgender, nonbinary...
During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on assessment mutations in BRCA1/BRCA2, TP53, PTEN, recommend approaches testing/counseling management strategies individuals with these mutations. This portion includes recommendations regarding diagnostic criteria patients Cowden...
Recent advances in molecular genetics have identified several genes associated with inherited susceptibility to cancer and provided a means begin identifying individuals families an increased risk of cancer. This rapid expansion knowledge about has implications for all aspects management, including prevention, screening, treatment. These guidelines specifically address hereditary breast/ovarian syndrome (HBOC), Li-Fraumeni syndrome, Cowden syndrome. were developed understanding that much our...
Abstract The COVID‐19 pandemic has altered the delivery of genetics services. In response to pandemic, our department offered telehealth visits all outpatients, regardless their physical proximity Omaha, Nebraska. Traditionally, did not offer patient's homes or patients who lived in close a clinic. Therefore, we designed survey gain insight into patient experience with remote genetic counseling appointments during pandemic. Any referred see provider pediatrics, prenatal, adult, cancer...
Adrenal Cushing syndrome (CS) is usually benign in etiology; however, although rarely, it can be due to adrenocortical carcinoma (ACC); which case, diagnosis and management are quite complicated.A 34-year-old woman presented with worsening confusion, weight gain, new-onset diabetes, hypertension. Her history was significant for a 7.4-cm left adrenal mass CS, were treated adrenalectomy 2 years ago. She received hydrocortisone replacement therapy after the surgery, discontinued on admission...
Abstract Using a traditional lecture format alone often limits students' opportunities to engage with and apply the concepts taught in classroom. This report describes design, curricular implementation, application of an innovative educational escape room as active learning tool for genetic counselor educators teach cancer risk assessment skills. A Cancer Risk Assessment Escape Room is novel way offer experiential assess learner's critical thinking ability models evolving clinical scenarios....