A5068221482- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Health Systems, Economic Evaluations, Quality of Life
- Multiple and Secondary Primary Cancers
- Colorectal Cancer Screening and Detection
- Computational Drug Discovery Methods
- Biotechnology and Related Fields
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Statistical Methods in Clinical Trials
- PARP inhibition in cancer therapy
- Prostate Cancer Treatment and Research
- CRISPR and Genetic Engineering
- Radiopharmaceutical Chemistry and Applications
- Cystic Fibrosis Research Advances
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Prostate Cancer Diagnosis and Treatment
- Helicobacter pylori-related gastroenterology studies
- Pancreatitis Pathology and Treatment
- Cardiac electrophysiology and arrhythmias
- Colorectal Cancer Treatments and Studies
- Renal and related cancers
- Immunodeficiency and Autoimmune Disorders
The Ohio State University
2022-2024
The Ohio State University Wexner Medical Center
2023-2024
WinnMed
2010-2015
Mayo Clinic in Florida
2009-2015
Jacksonville College
2009-2014
Cincinnati Children's Hospital Medical Center
2003
University of California, San Diego
2003
Christie (Canada)
2003
Cancer risk and Lhermitte-Duclos disease (LDD) estimates for Cowden syndrome (CS) are broad based on a small number of patients. Risk vital to the development diagnostic criteria, genetic counseling, cancer surveillance. To further elaborate estimate risks associated with CS, large cohort patients was evaluated. CS were identified from medical literature Mayo Clinic's records. All met accepted criteria CS. A total 211 (age 44 ± 16 years, 64% female, 46% PTEN mutation) included (published 90%...
The variant curation guidelines published in 2015 by the American College of Medical Genetics and Genomics Association for Molecular Pathology (ACMG/AMP) provided genetics community with a framework to assess pathogenicity; however, these rules are not gene specific. Germline pathogenic variants CDH1 cause hereditary diffuse gastric cancer lobular breast cancer, clinically challenging predisposition syndrome that often requires multidisciplinary team experts be properly managed. Given this...
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...
Screening for the Muir-Torre variant of Lynch Syndrome (LS) using Mismatch Repair (MMR) gene immunohistochemistry (IHC) on sebaceous neoplasms (SNs) is technically feasible. To date, research into clinical utility MMR IHC this indication limited. We conducted a retrospective chart review 90 patients with completed at least one SN from January 2005 to May 2010. SNs included were adenomas, epitheliomas, carcinomas and basal squamous cell differentiation. Of patients, 13 (14 %) had genetically...
Background Germline pathogenic variants in CDH1 are associated with increased risk of diffuse gastric cancer and lobular breast cancer. Risk reduction strategies include consideration prophylactic surgery, thereby making accurate interpretation germline critical for physicians deciding on these procedures. The Clinical Genome Resource (ClinGen) Variant Curation Expert Panel (VCEP) developed specifications variant curation a goal to resolve uncertain significance (VUS) ClinVar conflicting...
Patients with familial adenomatous polyposis (FAP) are known to have an increased risk for gastric adenomas. The clinical features of adenomas in FAP not been well characterized, and there is a lack standardized approaches the management these lesions.To study endoscopic appearance, factors, course, response therapy patients FAP.We retrospectively reviewed records 97 who underwent esophagogastroduodenoscopy (EGD) at Mayo Clinic (Florida, Rochester Arizona) between 2004 2013.Nine (9%) had...
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...
Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity framework.
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...
Background/Objectives Germline genetic testing is recommended for younger patients with idiopathic pancreatitis but there has been a lack of consensus in recommendations those over age 35. We aimed to analyze the results among subjects varying ages. Methods Individuals who underwent germline multigene susceptibility genes ( CASR , CFTR CPA1 CTRC PRSS1 SPINK1 ) through large commercial laboratory between 2017 and 2022 were included. Test information collected from test requisition forms...
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...
Background Colorectal cancer (CRC) can be prevented by the early detection and removal of advanced adenomas (AAs) colonoscopy. Our aim was to evaluate peripheral blood leukocyte (PBL) telomere length as a potential biomarker for presence AAs. Methods PBL measured in patients with AAs (n=35), control group similarly aged who had normal colonoscopy (n=145) separate population no history cancer, again (n=495). Telomere measurements were performed using quantitative PCR assay reported ratios...
We are reporting what we believe to be the first published case of patient initiated direct consumer (DTC) genetic testing test for presence a known familial mutation. Our client in this is from MSH2 family; both his/her parent and associated grandparent have previously tested positive Using 23andme's "family inheritance genome-wide comparison" option were able determine that our most likely inherited mutation without pursuing single site testing. pursued DTC instead due fear discrimination....
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...
Abstract Clinical guidelines recommend universal tumor screening (UTS) of colorectal and endometrial cancers for Lynch syndrome (LS). There are limited how to integrate germline testing somatic after a mismatch repair deficient (dMMR) is identified. We sought characterize current practice patterns barriers preferred among clinical providers in high‐risk cancer programs. A survey was sent 423 active members the Collaborative Group Americas on Inherited Gastrointestinal Cancer (CGA‐IGC) with...