A5084978845- 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
- Bullying, Victimization, and Aggression
- Ovarian cancer diagnosis and treatment
- Computational Drug Discovery Methods
- DNA Repair Mechanisms
- Biotechnology and Related Fields
- Sexuality, Behavior, and Technology
- LGBTQ Health, Identity, and Policy
- Behavioral and Psychological Studies
- PARP inhibition in cancer therapy
- Statistical Methods in Clinical Trials
- Youth Development and Social Support
- Reproductive Health and Technologies
- Radiation Dose and Imaging
- Adrenal and Paraganglionic Tumors
- Innovative Teaching and Learning Methods
- Colorectal Cancer Screening and Detection
- Education Discipline and Inequality
- Hormonal Regulation and Hypertension
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
University of Indianapolis
2021
OPKO Health (United States)
2017
Wyoming Department of Education
2014-2015
University of Wyoming
2014-2015
Georgia State University
2006-2012
Allegheny General Hospital
2007-2011
St Mark's Hospital
2009
Cancer Genetics (United States)
2007
Ricardo AEA (United Kingdom)
1994
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...
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...
ABSTRACT Gay, lesbian, bisexual, transgender, questioning and inter-sex (GLBTQI) youth, those perceived to be GLBTQI, face extensive verbal physical bullying in schools. Although increasing attention has been made at examining the safety concerns of sexual minority there remain important gaps literature as well significant sampling limitations. This article seeks identify respond research by: (a) reviewing existing about causes risk factors associated with homophobic bullying; (b)...
ABSTRACT This qualitative study aims to investigate urban students' perceptions of bullying. Thirty participants were recruited from the fourth through eighth grade in an school system. Five primary themes emerged representing these youths' of: (a) nature bullying; (b) characteristics victims and bullies; (c) perceived reasons for (d) reactions (e) preventive measures. Discrepancies pertaining power intent inflict harm found between student responses adult-generated views bullying...
School climate research emphasizes the critical role teachers play in providing safe and supportive environments for students to learn. Despite numerous negative physical mental health consequences related bullying schools, investigating teachers' responses reduce is scarce. Individual in-depth interviews were conducted with 30 fourth through eighth grade determine their perceptions, experiences, self-reported address bullying. Results yielded a two dimensional model representing four...
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...
SUMMARY The purpose of the Peer Victimization Intervention (PVI) was to develop and implement a culture-specific pilot intervention address effects bullying on middle school students who are victims utilizing Participatory Culture-Specific Model (PCSIM; Nastasi, Moore, & Varjas, 2004). involvement participants serve as cultural brokers in system and/or stakeholders used encourage acceptability, integrity, ecological validity, sustainability, institutionalization intervention. conducted an...
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...
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...
Perspectives regarding bullying of gay, lesbian, and questioning (GLQ) students were obtained from 16 school community service providers in this exploratory study. Insights gained in-school responses to homophobic threats beyond traditional punishments (e.g., suspension). Barriers developing safe schools for GLQ included passive personnel, a conservative religious climate, victim blaming, blindness students. Facilitators improving climate preventing also identified.
Teasing is a prevalent behavior in schools that can result both positive and negative outcomes for students. This article presents an exploratory investigation into teachers' perceptions of teasing schools, underrepresented perspective the literature. Semistructured interviews with 28 teachers grades 4–8 revealed complex decision-making processes regarding how they differentiate between bullying interactions select implement interventions. These suggested conceptualize as prosocial or...
ABSTRACT Existing literature details many forms of harassment against sexual minority youth, including those behaviors that are present in schools. School and community service providers, such as counselors psychologists, often witness first-hand the bullying occurs Through their direct contact with they remain knowledgeable current school environments facing these youth. Their perspectives on this population, however, lacking. Sixteen providers participated face-to-face, in-depth interviews...
The aim of this study was to compare the confidence experienced radiologists in excluding colonic neoplasia with CT colonography (CTC) compared barium enema. 78 patients (median age 70 years, range 61-87 44 women) underwent same day CTC and Two reporting enema assessed whether examination had excluded a polyp 6 mm or greater as "yes", "probably" "no" for each segments. different independently performed assessment on datasets. Responses were using paired exact test. Formal reports any...
PURPOSE: Adrenal incidentaloma is often diagnosed in patients with familial adenomatous polyposis, because they frequently undergo abdominal imaging and have a raised incidence of adrenal incidentaloma. This study investigates the natural history suggests schema for management. METHODS: An original cohort 14 polyposis incidentaloma, identified prospectively 12 years ago, was followed up clinically radiologically. A further group 16 also identified. All had lesions >1 cm. For both cohorts,...
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...
Breast-conserving therapy (BCT) for sporadic breast cancer has been widely accepted by surgeons and patients alike. While BCT is associated with a higher risk of ipsilateral tumor recurrence (IBTR), it not shown to decrease overall survival (OS) in comparison mastectomy. Many women BRCA1/2 mutation opt mastectomy instead breast-conserving measures at the time diagnosis. In some cases, this due fear aggressive disease, but date, there have no studies offering strong evidence that conservation...