A5023562692- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Pancreatic and Hepatic Oncology Research
- Genomics and Rare Diseases
- Digestive system and related health
- Helicobacter pylori-related gastroenterology studies
- Economic and Financial Impacts of Cancer
- Radiomics and Machine Learning in Medical Imaging
- Ocular Oncology and Treatments
- Colorectal Cancer Screening and Detection
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Global Cancer Incidence and Screening
- Cancer-related gene regulation
- Cutaneous Melanoma Detection and Management
- Glioma Diagnosis and Treatment
- Vascular Malformations and Hemangiomas
- Genetic and rare skin diseases.
- Tumors and Oncological Cases
- Ethics in Clinical Research
- Multiple and Secondary Primary Cancers
- Brain Metastases and Treatment
- RNA modifications and cancer
- Nutrition, Genetics, and Disease
- COVID-19 and healthcare impacts
University of Pennsylvania
2016-2024
University of Pennsylvania Health System
2021-2023
Penn Center for AIDS Research
2022
Hospital of the University of Pennsylvania
2020
California University of Pennsylvania
2019
To create an interactive web-based tool for the Prediction of Risk Metastasis in Uveal Melanoma (PRiMeUM) that can provide a personalized risk estimate developing metastases within 48 months primary uveal melanoma (UM) treatment. The model utilizes routinely collected clinical and tumor characteristics on 1227 UM, with option including chromosome information when available.Using cohort UM cases, Cox proportional hazard modeling was used to assess significant predictors metastasis chromosomal...
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....
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...
Abstract Juvenile polyposis syndrome (JPS) is a clinically diagnosed hamartomatous that increases the risk of gastrointestinal cancer. Approximately 40%–50% JPS caused by germline disease-causing variant (DCV) in SMAD4 or BMPR1A genes. The aim this study was to characterize phenotype DCV-negative and compare it with DCV-positive JPS. Herein, we analyzed cohort 145 individuals from nine institutions, including both pediatric adult centers. Data included age at diagnosis, family history,...
<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...
Abstract Background Somatic overgrowth conditions, including Proteus syndrome, Sturge–Weber and PIK3CA ‐related spectrum, are caused by post‐zygotic pathogenic variants, result in segmental mosaicism, give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur growth‐promoting pathways leading cellular proliferation expansion of tissues that arise from the affected lineage. Methods We report on 80 serial patients evaluated for somatic conditions a diagnostic laboratory...
Abstract Background The study purpose is to compare outcomes associated with completion of genetic testing between telemedicine and in-person gastrointestinal cancer risk assessment appointments during the COVID-19 pandemic. Methods Data was collected on patients scheduled July 2020 June 2021 in a evaluation program (GI-CREP) that utilized both visits throughout pandemic, survey administered. Results A total 293 had GI-CREP appointment rates versus were similar. Individuals diagnosed those...
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...
Melanocytoma are the melanocytic tumors originating from leptomeningeal melanocytes. Melanocytomas commonly seen in central nervous system (CNS) and often associated with neurocutaneous melanosis (NCM). However, simultaneous presentation of intra-axial extracranial melanocytoma is a very rare event. Here, we report unique case 21-year-old male intermediate-grade subcutaneous (SC) melanocytoma, mimicking lipoma, occurred synchronously an intracranial not NCM. A Caucasian presented to...
Cancer risk assessment services are important for patient care; effective use requires appropriate provider referral, accurate scheduling processes, and completed attendance at booked appointments. Sociodemographic clinical factors associated with gastrointestinal cancer (GIC)-specific appointments remain unstudied; therefore, we aimed to identify appointment completion in a GIC program tertiary academic center. Retrospective chart review was conducted on all patients scheduled an the...
<sec> <title>BACKGROUND</title> The use of multigene panels in clinical practice has created an increasing likelihood that cancer genetic testing will leave many patients with uncertainties regarding test interpretation, implications and recommendations, which change over time. We lack effective longitudinal care models to provide updated information results or medical recommendations obtain personal history updates. </sec> <title>OBJECTIVE</title> To bridge this gap medicine, we developed a...
<div>Abstract<p>Carriers of a pathogenic/likely pathogenic (P/LP) <i>BRCA1/BRCA2/ATM/PALB2</i> 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...
<div>Abstract<p>Carriers of a pathogenic/likely pathogenic (P/LP) <i>BRCA1/BRCA2/ATM/PALB2</i> 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...
1535 Background: Inherited mutations in cancer predisposition genes typically associated with adult-onset cancers, including BRCA1/2, have been found children cancer. However, it is unknown whether such are causative. Our objective to determine there an increased risk of pediatric malignancy families known carry BRCA1/2 mutations. Methods: We utilized the Cancer Risk Evaluation Program (CREP), a registry high-risk breast and ovarian undergoing testing. compared proportion malignancies (age ≤...
OBJECTIVES/SPECIFIC AIMS: Juvenile Polyposis Syndrome (JPS) is an inherited cancer predisposition syndrome sometimes attributed to a germline mutation in SMAD4 or BMPR1A. However, many patients meet clinical criteria for JPS without having pathogenic alteration either gene. Herein, we perform cross-sectional analysis of at pediatric and adult tertiary referral center understand potential differences the presentation outcomes with known causative gene mutation. Additionally, conduct whole...
e13680 Background: Multiplex genetic testing (MGT) simultaneously analyzes multiple cancer susceptibility genes and can reveal variants of uncertain significance (VUS) that have unclear associations with risks. Little is known about how people are prepared for receiving VUS results from MGT, or whether their emotional reactions differ based on the levels risk to which they may be susceptible. Methods: We recruited participants online Prospective Registry Testing (PROMPT). Those only a in...