A5053140265- Molecular Biology Techniques and Applications
- DNA and Nucleic Acid Chemistry
- Gene expression and cancer classification
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Colorectal Cancer Treatments and Studies
- Genetic Associations and Epidemiology
- Colorectal Cancer Screening and Detection
- Cutaneous Melanoma Detection and Management
- PARP inhibition in cancer therapy
- Melanoma and MAPK Pathways
- Lung Cancer Treatments and Mutations
- CAR-T cell therapy research
- Epigenetics and DNA Methylation
- Nutrition, Genetics, and Disease
- DNA Repair Mechanisms
- Colorectal and Anal Carcinomas
- Virus-based gene therapy research
- Economic and Financial Impacts of Cancer
- Multiple and Secondary Primary Cancers
- PI3K/AKT/mTOR signaling in cancer
- Immunotherapy and Immune Responses
- Computational Drug Discovery Methods
- Cancer-related molecular mechanisms research
AbbVie (United States)
2022-2025
Amgen (United States)
2018-2023
Vanderbilt University
2012-2021
Vanderbilt University Medical Center
2016-2020
Vanderbilt-Ingram Cancer Center
2015-2018
University of Southern California
2012-2014
Center for Human Genetics
2014
University of Michigan
2007-2013
USC Norris Comprehensive Cancer Center
2013
University of Ghana
2012
Abstract Motivation: The transition/transversion (Ti/Tv) ratio and heterozygous/nonreference-homozygous (het/nonref-hom) have been commonly computed in genetic studies as a quality control (QC) measurement. Additionally, these two ratios are helpful our understanding of the patterns DNA sequence evolution. Results: To thoroughly understand genomic measures, we performed study using 1000 Genomes Project (1000G) released genotype data ( N = 1092). An additional datasets 581 6) were used to...
Microsatellite instability (MSI) is displayed by approximately 15% of colorectal cancers (CRC). Defective DNA mismatch repair generates mutations at repetitive sequences such as those located in the double strand break (DSB) gene MRE11. We assessed mutational status MRE11 a panel 17 CRC cell lines and 46 primary tumors found strong correlation with MSI both tumors. Therefore, we hypothesized that deficiency may sensitize cells to poly(ADP-ribose) polymerase (PARP-1) inhibition based on...
Atypical Spitz tumors (ASTs) are rare spitzoid neoplasms of uncertain biological behavior. Our study was designed to characterize genetic abnormalities that may help differentiate ASTs from melanoma or nevi. We examined copy number variation in formalin-fixed, paraffin-embedded samples using an Agilent 44k array comparative genomic hybridization platform. Sixteen patients with AST (8 positive sentinel lymph node biopsy, 1 distant metastasis), 8 nevi, and 3 (2 spitzoid, superficial spreading)...
Though the role of brain derived neurotrophic factor (BDNF) as a marker for major depressive disorder (MDD) and antidepressant efficacy has been widely studied, BDNF in distinct groups patients remains unclear. We evaluated diagnostic value disease severity measured by HAM-D scores antidepressants among MDD patients. Fifty-one who met DSM-IV criteria were prescribed 38 controls participated this study. serum was at baseline, 1st, 2nd 8th treatment weeks. Depression using Hamilton Rating...
Melanoma is a heterogeneous malignancy. We set out to identify the molecular underpinnings of high-risk melanomas, those that are likely progress rapidly, metastasize, and result in poor outcomes.
High-frequency microsatellite-instable (MSI-H) tumors account for approximately 15% of colorectal cancers. Therapeutic decisions cancer are empirically based and currently do not emphasize molecular subclassification despite an increasing collection gene expression information. Our objective was to identify low weight compounds with preferential activity against MSI cancers using combined data sets.Three expression/query signatures (discovery set) characterizing MSI-H were matched...
Abstract Genetic variation in FGFR2 is a newly described risk factor for breast cancer. We estimated the relative and contribution of polymorphisms to cancer diverse ethnic groups within Jewish other Middle Eastern populations. genotyped four single nucleotide (SNP) tested association these SNPs haplotypes with population-based case-control study 1,529 women 1,528 controls. found significant associations between all studied (Ptrend < 0.0001). In ethnicity-specific analysis, were...
The purpose of this study was to quantify the risk cancers other than melanoma among family members CDKN2A mutation carriers using data from Genes, Environment and Melanoma study. Relative risks (RRs) all non-melanoma first-degree relatives (FDRs) patients with mutations (n = 65) FDRs without 3537) were calculated as ratio estimated event rates (number cancers/total person-years) in vs noncarriers exact Clopper-Pearson-type tests 95% confidence intervals (CIs). All statistical two-sided....
Abstract Background: Pathogenic germline mutations in the CDKN2A tumor suppressor gene are rare and associated with highly penetrant familial melanoma pancreatic cancer non-Hispanic whites (NHW). To date, prevalence impact of coding variants (RCV) racial minority groups remain poorly characterized. We examined role RCVs on risk among subjects. Methods: sequenced 220 African American (AA) cases, 900 noncancer AA controls, 183 Nigerian controls. RCV frequencies were determined for each group...
Diagnosed before age 50, early onset pancreatic malignancy (EOPM), is hypothesized to be a distinct subset of disease, although research limited. To better characterize EOPM, and the effect at diagnosis on cancer survival, we examined clinical characteristics survival in EOPM typical age-at-onset (TOPM) cases. Vanderbilt University Medical Center (VUMC) Cancer Registry confirmed adenocarcinomas (PDACs) malignant neuroendocrine tumors (PNETs) were evaluated. Clinical compared using χ(2)...
The RAS family of small GTPases represents the most commonly activated oncogenes in human cancers. To better understand prevalence somatic mutations and compendium genes that are coaltered RAS-mutant tumors, we analyzed targeted next-generation sequencing data 607,863 from 66,372 tumors 51 cancer types AACR Project GENIE Registry. Bayesian hierarchical models were implemented to estimate cancer-specific non-RAS mutations, evaluate co-occurrence mutual exclusivity, model effects tumor...
Abstract Background: Whether to return individual research results from cancer genetics studies is widely debated, but little known about how participants respond disclosure or its time and cost burdens on investigators. Methods: We recontacted at one site of a multicenter genetic epidemiologic study regarding their CDKN2A gene test implications for melanoma risk. Interested were disclosed by telephone followed 3 months. Results: Among 39 patients approached, 27 successfully contacted, 19...
Only a fraction of colorectal cancer heritability is explained by known risk-conferring genetic variation. This study was designed to identify novel risk alleles in Europeans. We conducted genome-wide association (GWAS) meta-analysis participants from population-based case–control Israel (n = 1616 cases, 1329 controls) and consortium the Colon Cancer Family Registry 1977 999 controls). used two-stage (discovery–replication) GWAS design, followed joint meta-analysis. A combined analysis...
// Leon Raskin 1 , Yan Guo 2 Liping Du Mark Clendenning 3 Christophe Rosty 3, 4, 5 Colon Cancer Family Registry (CCFR), Noralane M. Lindor 6 Stephen B. Gruber 7, 8 and Daniel D. Buchanan 5, 9 Division of Epidemiology, School Medicine, Vanderbilt University Medical Center Ingram Comprehensive Center, Nashville, TN, USA for Quantitative Sciences, Colorectal Oncogenomics Group, Genetic Epidemiology Laboratory, Department Pathology, Melbourne, Parkville, Victoria, Australia 4 Envoi Specialist...
Talimogene laherparepvec (T-VEC) is an intralesional treatment for unresectable cutaneous, subcutaneous and nodal melanoma. COSMUS-1 was conducted to examine how T-VEC used in US clinical practice.A chart review at seven centers, with 78 patients screened 76 eligible.Patients began between October 2015 December 2016. Median follow-up 9.4 months. Twenty percent of (n = 15) completed no remaining injectable lesions or pathologic complete response. Flu-like symptoms were the most commonly...
Diversity in clinical trials is defined by the inclusion of trial participants from various demographic groups that are representative broader population impacted a disease state. critical identifying potential differences safety and efficacy treatments across races, ethnicities, ages, sexes, or other variables. In United States, diversity often benchmarked against US Census data, which may limit representativeness patient demographics trials. Disease-specific, estimates real-world data...
Abstract A Mediterranean diet increases intakes of n-3 and n-9 fatty acids lowers intake n-6 acids. This can impact colon cancer risk as are metabolized to proinflammatory eicosanoids. The purpose this study was evaluate interactions polymorphisms in the acid desaturase (FADS) genes, FADS1 FADS2, changes on concentrations serum colon. total 108 individuals at increased were randomized either a or Healthy Eating diet. Fatty measured both colonic mucosa baseline after six months. Each...
Colorectal cancer (CRC) is the fifth most common in Africa, with significant differences incidence, biology and clinical behavior from other populations.We studied prevalence clinicopathological features of microsatellite instability (MSI) young onset CRC 83 archival samples University Ibadan, Nigeria.Nigerian cases were MSI-high 43% had significantly lower histological heterogeneity than microsatellite-stable (20% vs. 55% respectively, p=0.046). Presence signet ring cell differentiation...
Founder mutations are an important cause of Lynch syndrome and facilitate genetic testing in specific ethnic populations. Two putative founder MSH6 were analyzed 2685 colorectal cancer (CRC) cases, 337 endometrial (EnCa) cases 3310 healthy controls Ashkenazi Jewish (AJ) descent from population-based hospital-based case–control studies Israel, Canada the United States. The carriers haplotyped age was estimated. MSH6*c.3984_3987dupGTCA found 8/2685 CRC 2/337 EnCa 1/3310 controls, consistent...