A5113782144- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Cancer-related gene regulation
- Innovations in Medical Education
- Renal Transplantation Outcomes and Treatments
- Pancreatic and Hepatic Oncology Research
- Childhood Cancer Survivors' Quality of Life
- Prenatal Screening and Diagnostics
- Ethics in Clinical Research
- Radiomics and Machine Learning in Medical Imaging
- RNA modifications and cancer
- Renal and Vascular Pathologies
- Neurological Complications and Syndromes
- Organ Donation and Transplantation
- CRISPR and Genetic Engineering
- Clinical Reasoning and Diagnostic Skills
- Mentoring and Academic Development
- Pregnancy and Medication Impact
- Healthcare professionals’ stress and burnout
- Health Sciences Research and Education
- Restless Legs Syndrome Research
- Evaluation of Teaching Practices
- Dialysis and Renal Disease Management
University of Pennsylvania
2018-2024
University of Pennsylvania Health System
2021-2023
Hospital of the University of Pennsylvania
2023
University of Wisconsin–Madison
2016-2020
Temple University Health System
2018
PURPOSE Whether germline multigene panel testing (MGPT) should be performed in all individuals with colorectal cancer (CRC) remains uncertain. Therefore, we aimed to determine the yield and potential clinical impact of MGPT across a large, diverse CRC cohort. METHODS This was retrospective cohort study adults who underwent > 10 genes at commercial laboratory between March 2015 May 2021. All data were prospectively collected through single retrospectively analyzed. RESULTS A total 34,244...
PurposeCTNNA1 is a potential diffuse gastric cancer risk gene, however CTNNA1 testing on multigene panel (MGPT) remains unstudied.MethodsDe-identified data from 151,425 individuals who underwent at commercial laboratory between October 2015 and July 2019 were reviewed. Tissue α-E-catenin immunohistochemistry was performed c.1351C>T (p.Arg451*) carriers.ResultsFifty-two (0.03% tested) had loss-of-function (LOF) variants 1057 (0.7% total of 302 distinct missense uncertain significance....
<sec> <title>BACKGROUND</title> Germline BRCA1/2 testing has become a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. With FDA approval PARP inhibitors in patients advanced breast, ovarian, pancreatic prostate cancer, there is an additional therapeutic rationale all germline mutations. Yet, many at-risk do not have access to services, leaving carriers unidentified. </sec> <title>OBJECTIVE</title> The eREACH study (A...
PURPOSE Tumor-only genomic profiling (TGP) is increasingly advocated for all patients with cancer given the possible therapeutic implications. It critical to develop clinical algorithms identify and address potentially actionable germline findings identified by TGP. METHODS A multidisciplinary team analyzed publicly available data genes in which mutations are implicated susceptibility established a pipeline automate referral evaluation of TGP findings. RESULTS total 2,308 underwent TGP, 81...
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,...
Multigene panel testing (MGPT) has become a critical component of cancer risk assessment in clinical practice. As technology and access improve costs decrease, more individuals than ever are undergoing MGPT for genetic evaluation. One gene that deserves special consideration when included on is CDH1, which codes the cell-cell adhesion protein E-cadherin. Pathogenic likely pathogenic germline variants CDH1 have been associated with hereditary diffuse gastric syndrome, highly penetrant...
Pathogenic variants (PV) of CTNNA1 are found in families fulfilling criteria for hereditary diffuse gastric cancer (HDGC) but no risk estimates were available until now. The aim this study is to evaluate (DGC) risks carriers germline PV.Data from published updated and new identified through international collaborations. cumulative DGC by age PV was estimated with the genotype restricted likelihood (GRL) method, taking into account non-genotyped individuals conditioning on all observed...
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...
While protein therapeutics are invaluable in managing numerous diseases, many require frequent injections to maintain therapeutically effective concentrations, due their short half-life circulation. PolyXen™, a platform and patented technology employing biodegradable, non-immunogenic hydrophilic Polysialic Acids (PSA) for drug delivery, is being utilized overcome such limitations, thereby potentially enabling the clinical utility of broad range therapeutics. Here, we report recent progress...
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...
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.
Carriers of a pathogenic/likely pathogenic (P/LP) BRCA1/BRCA2/ATM/PALB2 variant are at increased risk pancreatic ductal adenocarcinoma (PDAC), yet current guidelines recommend surveillance only for those with family history PDAC. We aimed to investigate outcomes endoscopic ultrasound (EUS)-based PDAC in carriers without performed retrospective analysis all P/LP who underwent EUS tertiary care center. Of 194 EUS, 64 (33%) had no and least 1 surveillance. These individuals 143 total EUSs, were...
Inherited biallelic pathogenic variants (PVs) in BRCA2 cause Fanconi Anemia complementation group D1 (FA-D1), a severe pediatric bone marrow failure and high-risk cancer syndrome. We identified PVs young adult with multiple basal cell carcinomas, adult-onset colorectal small neuroendocrine carcinoma, without failure. No were any other known susceptibility gene, there was no evidence of reversion mosaicism. The proband's deceased sister had classic FA-D1 presentation shown to carry the same...
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs’ evolving contributions to the literature, with goal facilitating worldwide professional development for GCs scholarly activities. Methods: Publications were cataloged by members Section Counseling (Section), established at Children’s Hospital Philadelphia and University Pennsylvania 2014, including publication year, journal, impact...