- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Prostate Cancer Treatment and Research
- Nutrition, Genetics, and Disease
- Male Breast Health Studies
- Genetic factors in colorectal cancer
- Childhood Cancer Survivors' Quality of Life
- Prostate Cancer Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Prenatal Screening and Diagnostics
- Ethics in Clinical Research
- PARP inhibition in cancer therapy
- Biotechnology and Related Fields
- Pharmaceutical industry and healthcare
Ambry Genetics (United States)
2016-2023
The University of Texas Southwestern Medical Center
2014-2015
Cancer Genetics (United States)
2014-2015
University of Cincinnati
2001
Genetic predisposition to male breast cancer (MBC) is not well understood. The aim of this study was better define the genes contributing MBC and utility germline multi-gene panel testing (MGPT) for explaining etiology MBCs. Clinical histories molecular results were retrospectively reviewed 715 patients who underwent MGPT from March 2012 June 2016. detection rate 18.1% tested variants in 16 susceptibility with no prior BRCA1/2 testing. BRCA2 CHEK2 most frequently mutated (11.0 4.1% testing,...
We describe the pathogenic variant spectrum and identify predictors of positive results among men referred for clinical genetic testing prostate cancer.
Guidelines for prostate cancer (PCA) germline testing (GT) have expanded, with impact on clinical management and hereditary assessment. African American (AA) men lower engagement in GT, concern widening disparities genetically informed care. We evaluated the spectrum a cohort of PCA enriched AA who underwent GT to inform tailored genetic evaluation strategies.
CancerGene Connect (CGC) is a web-based program that combines the collection of family and medical history, cancer risk assessment, psychosocial report templates, result tracking system, patient follow up system. The performance CGC was assessed in several ways: pre-appointment completion data analyzed for demographic health variables; time study to assess overall per case compare entry by genetic counselor compared patient, measured quality assessment via observation interview patients....
BackgroundThe US Preventative Service Task Force recommends that physicians perform a genetic risk assessment to identify women at for BRCA1/2 mutations associated with hereditary breast and ovarian cancer (HBOC) syndrome. However, outcomes data after diagnosis of HBOC syndrome especially in diverse populations, are minimal. Here we asked if screening high-risk underserved identified the mammogram population reduces incidence.MethodsWe evaluated 61,924 mammography family histories suggestive...
Abstract INTRODUCTION: The role of BRCA2 and BRCA1 in male breast cancer is well established, however, there limited data regarding the other genes cancer. aim this study was to assess clinical characteristics genetic testing outcomes men diagnosed with undergoing multi-gene testing. METHODS: Test results were reviewed for patients who underwent analysis cancer-associated via from March 2012 2015. Panels consisted 5-49 genes, depending on test ordered. Clinical histories provided requisition...
Abstract While the population-based risk for breast cancer in males remains relatively low (1:1000), inherited predisposition can significantly raise this to as high 10%, men who carry a mutation BRCA2 gene. Lifetime risks of 1-2% have also been reported BRCA1. These risks, well elevated prostate, pancreatic, and melanoma cancers, are important discuss families diagnosed with Hereditary Breast Ovarian Cancer Syndrome, which is often viewed being clinically relevant only women an affected...
You have accessJournal of UrologyProstate Cancer: Epidemiology & Natural History II1 Apr 2018MP34-18 PERFORMANCE OF MULTIGENE PANEL TESTING IN HEREDITARY PROSTATE CANCER Mary Pritzlaff, Kyle Allen, Holly LaDuca, Richard Fantus, and Brian Helfand PritzlaffMary Pritzlaff More articles by this author , AllenKyle Allen LaDucaHolly LaDuca FantusRichard Fantus HelfandBrian View All Author Informationhttps://doi.org/10.1016/j.juro.2018.02.1110AboutPDF ToolsAdd to favoritesDownload CitationsTrack...
Abstract Impact of Multigene Panel Testing on Medical Management: Preliminary results a pre- and post-test clinician survey Identification individuals with germline variants in cancer predisposition genes has risk management therapeutic implications. Adoption multi-gene panel testing (MGPT) led to the development guidelines for numerous high moderate breast/ovarian genes. Limited data exist impact MGPT as they pertain these guidelines. Here we describe designed assess effect clinical...
10502 Background: Germline testing (GT) for prostate cancer (PCA) is central to metastatic disease management, PCA screening strategies, and hereditary assessment. African American (AA) males have a higher burden of PCA, yet lower engagement in germline which limits understanding genetic contribution PCA. Here we evaluated the spectrum AA White with undergoing clinical multigene panel (MGPT) inform strategies attention equity. Methods: Study participants included men who underwent 14-gene...