A5064418448- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Childhood Cancer Survivors' Quality of Life
- Ovarian cancer diagnosis and treatment
- Nutrition, Genetics, and Disease
- Prenatal Screening and Diagnostics
- Health Policy Implementation Science
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Family Support in Illness
- PARP inhibition in cancer therapy
- Biomedical Ethics and Regulation
- Chemotherapy-induced cardiotoxicity and mitigation
- Global Cancer Incidence and Screening
- Multiple and Secondary Primary Cancers
- Cancer-related cognitive impairment studies
- CRISPR and Genetic Engineering
- Migration, Ethnicity, and Economy
- Bullying, Victimization, and Aggression
- Community Health and Development
- Occupational Health and Safety in Workplaces
- Testicular diseases and treatments
The University of Texas MD Anderson Cancer Center
2009-2024
University of Pennsylvania
2014-2023
Yale New Haven Health System
2018-2019
Temple University Health System
2018
Cancer Genetics (United States)
2009-2018
Smilow Cancer Hospital
2018
Fox Chase Cancer Center
2016-2018
University of Chicago
2016
Duke University
2014
Washington University in St. Louis
2014
Videoconferencing has been used to expand medical services low-access populations and could increase access genetic at community sites where in-person visits with providers are not available.To evaluate the feasibility of, patient feedback cognitive affective responses remote two-way videoconferencing (RVC) telegenetic multiple sociodemographically diverse practices without providers.Patients 3 in 2 US states outside host center completed RVC pretest (visit 1, V1) post-test 2, V2) counseling...
Germline genetic testing is standard practice in oncology. Outcomes of telephone disclosure a wide range cancer test results, including multigene panel (MGPT) are unknown. Patients undergoing were recruited to multicenter, randomized, noninferiority trial (NCT01736345) comparing (TD) results with usual care, in-person (IPD) after tiered-binned pretest counseling. Primary outcomes included change knowledge, state anxiety, and general anxiety. Secondary cancer-specific distress, depression,...
Abstract Families often express difficulty to their providers and request guidance regarding the task of communicating with children about potential adult‐onset inherited cancer risks. This disclosure is complicated by parent's ongoing adjustment mutation status, guilt at transmission child, concern over inciting distress in children, varied capacities home understand genetic information. Providers do not have adequate resources support or facilitate test results children. Optimally,...
Identification of the 10% to 15% patients with ovarian cancer who have germline BRCA1 or BRCA2 mutations is important for management both and relatives. The BRCAPRO model, which estimates mutation likelihood based on personal family history, can inform genetic testing decisions. This study's purpose was assess accuracy in women cancer.BRCAPRO scores were calculated 589 referred counseling at three institutions. Observed compared those predicted by BRCAPRO. Analysis variance used factors...
The genotype-phenotype correlations of the specific BRCA1 and BRCA2 mutations in multi-ethnic populations USA have not yet been fully investigated. This study was designed to evaluate effects ethnicity at mutation locations breast/ovarian cancer phenotypes. Our cohort included 445 women with different ethnic backgrounds who underwent BRCA genetic testing between 1997 2010. Known clinical pathologic characteristics were compared Chi-Square Analysis or Fisher's Exact test as appropriate. three...
PURPOSE Germline CDH1 pathogenic variants (PV) are associated with hereditary diffuse gastric cancer and lobular breast cancer. Although prevalence of PV is low in the general population, detection these increasing growing use multigene panel testing. Little known about experiences individuals tested for testing era. METHODS Participants recruited from Prospective Registry Multiplex Testing completed a cross-sectional self-report survey regarding genetic experiences, medical management,...
Understanding the outcomes of returning individual genetic research results to participants is critical because some variants are found be associated with health and have become available for clinical testing.BRCA1/2-negative women early-onset breast cancer, multiple primary cancers, or a family history cancer who participated in gene discovery registry were offered opportunity learn their 24 susceptibility genes counselor after predisclosure counseling. Outcomes included uptake results,...
Telephone disclosure of cancer genetic test results is noninferior to in‐person disclosure. However, how patients who prefer communication differ from those agree telephone unclear but important when considering delivery models for medicine. Patients undergoing testing were recruited a multicenter, randomized, noninferiority trial (NCT01736345) comparing results. We evaluated preferences disclosure, factors associated with this preference and outcomes compared agreed randomization. Among...
Cowden syndrome is an autosomal dominant disorder characterized by the development of multiple intestinal hamartomas, distinctive mucocutaneous lesions, and increased risk endometrial, breast, thyroid cancer.An adolescent girl whose mother had a known germline PTEN mutation presented with abnormal vaginal bleeding was diagnosed grade 2 endometrial adenocarcinoma. She underwent robotic hysterectomy found to have no myometrial invasion or distant disease. Genetic testing revealed patient...
Purpose Multigene panels (MGPs) are increasingly being used despite questions regarding their clinical utility and no standard approach to genetic counseling. How frequently providers use MGP testing how patient-reported outcomes (PROs) differ from targeted (eg, BRCA1/2 only) unknown. Methods We evaluated of PROs in participants undergoing cancer the multicenter Communication Genetic Test Results by Telephone study (ClinicalTrials.gov identifier: NCT01736345), a randomized telephone versus...
Although multigene panel testing (MGPT) is increasingly utilized in clinical practice, there remain limited data on patient-reported outcomes. BRCA 1/2 negative patients were contacted and offered MGPT. Patients completed pre- posttest counseling, surveys assessing cognitive, affective behavioral outcomes at baseline, postdisclosure 6 12 months. Of 317 eligible BRCA1/2 who discussed the study with research staff, 249 (79%) enrolled. Decliners more likely to be older, non-White, recruited by...
We developed a web-based education intervention as an alternative to predisclosure with genetic counselor (GC) reduce participant burden and provider costs return of research results.
541 Background: The Oncotype DX score is widely used to evaluate recurrence risk and potential benefit of chemotherapy in stage 1, estrogen receptor (ER) positive, Her2 negative tumors. was developed validated sporadic breast cancer patients. No data are available regarding results BRCA1/2 mutation carriers. purpose this study determine the distribution scores patients with associated cancers, as well subsequent therapy disease course for population. Methods: 18 were identified between...
1562 Background: BRCA1/2 mutation carriers have an elevated lifetime risk of developing breast cancer. Knowledge one’s status may aid earlier detection cancers due to increased awareness and screening with MRIs. Methods: Retrospective analysis tumor characteristics known our institution who were diagnosed cancer from 1/1/2009 - 12/31/2013. Results: 106 their first during the study period. 82 patients received care primarily at clinical sites included in study. 19.5% (16/82) prior diagnosis...
Abstract Background: Given the increasing demand for genetic services and limited workforce, many patients do not receive recommended pre- post-test counseling. Telemedicine has been used to expand specialized medical low access populations. The feasibility outcomes of telemedicine in clinical genetics are well described. Methods: Patients at 3 community sites without counseling received real-time pre-test (V1) (V2) cancer susceptibility with a counselor (GC) center expertise via sites’ host...
1546 Background: After a primary breast cancer (BC) or ovarian (OC) diagnosis, women have risk to develop second cancer, significantly more so in with BRCA gene mutation. The objective was evaluate characteristics of positive and negative diagnosed metachronous BC OC. Methods: Women OC were identified at the University Texas MD Anderson Cancer Center. test results, age diagnosis both OC, first degree relatives (FDR) and/or total affected, histopathologic tumor features obtained from...