A5055257605- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Health Systems, Economic Evaluations, Quality of Life
- Ethics in Clinical Research
- Biotechnology and Related Fields
- Computational Drug Discovery Methods
- Genomic variations and chromosomal abnormalities
- Statistical Methods in Clinical Trials
- Mitochondrial Function and Pathology
- Nutrition, Genetics, and Disease
- PARP inhibition in cancer therapy
- Ovarian cancer diagnosis and treatment
- Cardiac electrophysiology and arrhythmias
- DNA Repair Mechanisms
- Global Cancer Incidence and Screening
- CRISPR and Genetic Engineering
- Prenatal Screening and Diagnostics
- Biomedical Ethics and Regulation
- Cardiomyopathy and Myosin Studies
- Metabolism and Genetic Disorders
- Ion channel regulation and function
- Patient-Provider Communication in Healthcare
- Cystic Fibrosis Research Advances
OPKO Health (United States)
2017
Courtagen Life Sciences (United States)
2013
Transgenomic (United States)
2011-2012
Mayo Clinic
2012
University of North Carolina at Chapel Hill
2004-2010
Indiana University School of Medicine
2010
Waverly Hematology Oncology
2007
Pediatrics and Genetics
2004-2006
Brandeis University
2002
PurposeGerm-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a laboratory both well-established, high-risk (e.g., BRCA1/2, MLH1, MSH2) well recently identified PALB2, BRIP1), many which have increased but less well-defined penetrance.MethodsClinical genetic was performed on over 10,000 consecutive cases referred evaluation germ-line genes, and results were analyzed frequency pathogenic or likely...
Germline genetic testing is recommended by practice guidelines for patients diagnosed with cancer to enable genetically targeted treatment and identify relatives who may benefit from personalized screening prevention.
An association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have insufficient data to address this question for each the LS genes individually.
CDH1 pathogenic variants have been estimated to confer a 40% 70% and 56% 83% lifetime risk for gastric cancer in men women, respectively. These are likely be overestimates owing ascertainment of families with multiple cases cancer. To our knowledge, there no penetrance estimates without this bias.To estimate patient cohort not exclusively ascertained based on strict hereditary diffuse (HDGC) criteria.Retrospective review 75 found through clinical multigene panel testing at large commercial...
While the traditional model of genetic evaluation for breast cancer risk recommended face-to-face disclosure testing results, BRCA1/2 results are increasingly provided by telephone. The few existing studies on telephone counseling provide conflicting about its desirability and efficacy. current study aimed to (1) Estimate prevalence among counselors providing test phone (2) Assess patient satisfaction with delivered versus in-person. A survey was sent members Familial Cancer Risk Counseling...
Abstract Background: Lower enrolment of minorities into research studies has been reported frequently. Most have little information about nonparticipants, making it difficult to identify characteristics associated with and how they might vary by race. Methods: Women who had previously participated in a population-based, case-control study breast cancer North Carolina were invited enrol genetics registry. Detailed questionnaire data on sociodemographic risk factors available for all women. We...
Abstract Family‐based research is essential to understanding the genetic and environmental etiology of human disease. The success family‐based often depends on investigators' ability identify, recruit, achieve a high participation rate among eligible family members. However, recruitment members raises ethical concerns due tension between protecting participants' privacy promoting quality, guidelines for these activities are not well established. Cancer Genetics Network Bioethics Committee...
Purpose Studies suggest that African American women are less likely to pursue BRCA1/2 genetic testing than white women. However, such studies often confounded by unequal access care. Methods Data from 132 and 636 women, obtained a clinical database at the University of North Carolina (Chapel Hill, NC) between 1998 2005, were analyzed assess uptake. Importantly, setting minimized barriers both cost access. Race time new breast cancer diagnosis (recent v > 1 year before evaluation) assessed...
Abstract Purpose: The identification of variants uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for clinical management variant carriers. ACMG/AMP (American College Medical Genetics Genomics/Association Molecular Pathology) classification framework, which incorporates multiple sources evidence, has potential to establish relevance many VUS. We sought classify 133 single-nucleotide substitution encoding missense DNA-binding domain...
Abstract Pathogenic protein-truncating variants of RAD51C, which plays an integral role in promoting DNA damage repair, increase the risk breast and ovarian cancer. A large number RAD51C missense uncertain significance (VUS) have been identified, but effects majority these on function cancer predisposition not established. Here, analysis 173 by a homology-directed repair (HDR) assay reconstituted RAD51C−/− cells identified 30 nonfunctional (deleterious) variants, including 18 hotspot within...
This study explored whether reactions to the Cancer Genetics Network (CGN) or CGN enrollment differed by receipt of a standard informational brochure versus targeted version addressing factors previously associated with African Americans' health behavior decisions and research participation. The 262 participants, identified through tumor registries clinic contacts, were mailed brochures completed phone interviews. When asked - based on they not 'leaning toward' enrollment, about 75% both...
Abstract Healthcare disparities in genomic medicine are well described. Despite some improvements, we continue to see fewer individuals of African American, Asian, and Hispanic ancestry undergo genetic counseling testing compared those European ancestry. It is established that variant uncertain significance (VUS) rates higher among non‐European ancestral groups undergoing multi‐gene hereditary cancer panel testing. However, pathogenic (PV) yields, data general, often reported aggregate...
Genes in the homologous recombination pathway have shown varying results literature regarding ovarian cancer (OC) association. Recent case-control studies used allele counts alone to quantify genetic associations with cancer. A retrospective study was performed on 6,182 women OC referred for hereditary multi-gene panel testing (cases) and 4,690 mothers from trios who were whole-exome sequencing (controls). We present age-adjusted odds ratios (ORAdj) determine association of pathogenic...
Patients and clinicians alike view anonymous testing as a potential way to avoid perceived risks of genetic such insurance employment discrimination the loss privacy. To assess their experience with attitudes towards for BRCA1/2, counselors were invited complete an internet-based survey via NSGC Familial Cancer Risk Counseling Special Interest Group (FCRC-SIG) listerv. A majority 115 respondents (70%) had received requests from patients BRCA1/2 at some point in careers 43% complied this...
<div>Abstract<p>Pathogenic protein-truncating variants of RAD51C, which plays an integral role in promoting DNA damage repair, increase the risk breast and ovarian cancer. A large number RAD51C missense uncertain significance (VUS) have been identified, but effects majority these on function cancer predisposition not established. Here, analysis 173 by a homology-directed repair (HDR) assay reconstituted RAD51C-/- cells identified 30 non-functional (deleterious) variants,...
<p>Supplementary Materials, References, Tables and Figures</p>