A5036515989- Health Systems, Economic Evaluations, Quality of Life
- Advanced Causal Inference Techniques
- Esophageal Cancer Research and Treatment
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Science, Research, and Medicine
- Epigenetics and DNA Methylation
- Prostate Cancer Treatment and Research
- Cancer-related gene regulation
- Global Public Health Policies and Epidemiology
- Colorectal Cancer Screening and Detection
- Prostate Cancer Diagnosis and Treatment
- Colorectal Cancer Treatments and Studies
- Insurance, Mortality, Demography, Risk Management
- Vaccine Coverage and Hesitancy
- Nutrition, Genetics, and Disease
- Multiple and Secondary Primary Cancers
- Molecular Biology Techniques and Applications
- Cancer Diagnosis and Treatment
- BRCA gene mutations in cancer
- Nutritional Studies and Diet
- Cancer Genomics and Diagnostics
- Glutathione Transferases and Polymorphisms
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Cleveland Clinic Lerner College of Medicine
2025
Cerner (United States)
2025
Cleveland Clinic
2025
Moffitt Cancer Center
2020-2025
University of Southern California
2018-2023
University of Cape Town
2011-2019
Centre international de recherche sur le cancer
2016-2018
Hellenic Health Foundation
2018
Hospital Del Mar
2018
USC Norris Comprehensive Cancer Center
2018
Importance Immune checkpoint inhibitors (ICIs) have been approved for treatment of microsatellite instable (MSI-H) metastatic colorectal cancer (mCRC), but factors associated with receipt and efficacy ICIs in routine clinical practice remain largely unknown. Objective To identify survival outcomes among patients mCRC practice. Design, Setting, Participants This population-based cohort study used deidentified data from a nationwide electronic health record–derived database to include 18 932...
Abstract Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the region from 71,535 cancer cases and 52,935 controls of European ancestry to define overall contribution germline variation at risk. We identify 12 independent risk signals ( p < 4.28 × 10 −15 ), three variants that have yet be reported. From polygenic score (PRS) model, derived assess cumulative effect 8q24, men in top 1% PRS 4-fold (95%CI =...
In studies of men European ancestry, rare pathogenic variants in DNA repair pathway genes have been shown to be associated with risk aggressive prostate cancer. The contribution coding variation cancer African ancestry has not established.
Epidemiological studies have reported inconsistent findings for the association between B vitamins and breast cancer (BC) risk. We investigated relationship biomarkers of folate vitamin B12 risk BC in European Prospective Investigation into Cancer Nutrition (EPIC) cohort. Plasma concentrations were determined 2,491 cases individually matched to 2,521 controls among women who provided baseline blood samples. Multivariable logistic regression models used estimate odds ratios by quartiles...
Abstract Polygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher undertake targeted screening. However, current PRS using European ancestry data sub-optimal performance in non-European populations, limiting their utility among these populations. Towards addressing this deficiency, we expand development for CRC incorporating Asian (21,731 cases; 47,444 controls) into training datasets (78,473 107,143 controls). The...
Genetic variants in multiple cellular pathways have been associated with an altered risk of oesophageal cancer. In this study, eight genes previously squamous cell carcinoma (OSCC) European or Asian populations were investigated two South African populations. We genotyped 12 single-nucleotide polymorphisms and one insertion/deletion variant 1463 individuals from the Black Mixed Ancestry No OSCC population. population, ALDH2 +82 G > A (rs886205) was significantly a reduced (odds ratio = 0.70,...
Oesophageal squamous cell carcinoma (OSCC) has a high prevalence in the Black and Mixed Ancestry populations of South Africa. Recently, three genome-wide association studies Chinese identified five new OSCC susceptibility loci, including variants at PLCE1 , C20orf54 PDE4D RUNX1 UNC5CL but their contribution to disease risk other is unknown. In this study, we report testing from these loci for with African (407 cases 849 controls) (257 860 populations. The variant rs2014300, which reduced...
MicroRNAs (miRNAs) and related polymorphisms have been implicated in the susceptibility to oesophageal squamous cell carcinoma (OSCC). In our study, three miRNA-related SNPs: rs6505162 A>C (pre-miRNA of miR-423), rs213210 A>G (3'UTR miR-219-1) rs7372209 C>T (5'UTR miR-26a-1) were investigated Black Mixed Ancestry population groups South Africa. The potential cumulative effects these SNPs, as well gene-environment interactions also analysed. Blacks, was associated with OSCC under dominant,...
There are both limited and conflicting data on the role of dietary fat specific fatty acids in development pancreatic cancer. In this study, we investigated association between plasma phospholipid cancer risk European Prospective Investigation into Cancer Nutrition (EPIC) cohort. The acid composition was measured by gas chromatography samples collected at recruitment from375 incident cases and375 matched controls. Associations with were evaluated using multivariable conditional logistic...
Background Polymorphisms in the Glutathione S-transferase genes are associated with altered risks many cancers, but their role oesophageal cancer is unclear. Recently a 37-kb deletion polymorphism of GSTT2B that reduces expression GSTT2 has been described. We evaluated influence GSTT1 and polymorphisms, GSTP1 Ile105Val (rs1695) on susceptibility to squamous cell carcinoma (OSCC) Black Mixed Ancestry populations South Africa. Methods Results The GSTT1, variants were genotyped 562 OSCC cases...
There is increasing evidence that folate, an important component of one-carbon metabolism, modulates the epigenome. Alcohol, which can disrupt folate absorption, also known to affect We investigated association dietary and alcohol intake on leukocyte DNA methylation levels in European Prospective Investigation into Cancer Nutrition (EPIC) study. Leukocyte genome-wide profiles approximately 450,000 CpG sites were acquired with Illumina HumanMethylation 450K BeadChip measured among 450 women...
Abstract Background Addressing critical gaps in precision medicine initiatives colorectal cancer (CRC) requires building larger collaborative studies. Methods The Latino Colorectal Cancer Consortium (LC3) is a resource that harmonizes data collected observational studies with from individuals who identify as Hispanic/Latino diagnosis of primary adenocarcinoma. Data includes demographics, medical history, family and lifestyle risk factors patient-completed surveys. Vital status, cause death,...
Tobacco smoking and red meat consumption are some of the known risk factors associated with development oesophageal cancer. N-acetytransferases (NAT1 NAT2) play a key role in metabolism carcinogenic arylamines present tobacco smoke overcooked meat. We hypothesized that NAT1 NAT2 genetic polymorphisms may influence cancer upon exposure to environmental carcinogens. Single nucleotide (SNPs) genes were investigated by genotyping 732 cases 768 healthy individuals from two South African...
The following, from the 12th OESO World Conference: Cancers of Esophagus, includes commentaries on evolution low-grade squamous and glandular dysplasia to invasive carcinoma; mutational spectra Barrett's esophagus adenocarcinoma; risk p53-immunoreactive compared non-immunoreactive mucosa for progression cancer; role lectins in racemase immunoreactivity prediction adenocarcinoma.
Oesophageal squamous cell carcinoma (OSCC) has a high incidence in southern Africa and poor prognosis. Limited information is available on the contribution of genetic variants susceptibility to OSCC this region. However, recent genome-wide association studies have identified multiple loci Asian European populations. In study, we investigated from seven risk non-African populations for with South African Black population. We performed total 1471 cases 1791 controls two study sample groups,...
1548 Background: LS is caused by a germline mutation in one of several DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6 or PMS2 (d-MMR). A minority patients have MMR proficient tumors (p-MMR). ICI therapy has dramatically changed outcome d-MMR (majority patients. However, data about response to patients, irrespective their tumor status scarce. The aim this study was evaluate outcomes all associated Cancer. Methods: This retrospective analysis cancers treated with the 6 ICIs at our center....
Abstract Coffee consumption has been associated with the risk of cancer at several anatomical sites, but findings, mostly from studies non-Hispanic whites and Asians, are inconsistent. The association between coffee incidence not thoroughly examined in African Americans. We conducted a nested case–control study including 1801 cases 3337 controls among Americans Southern Community Cohort Study (SCCS) to examine drinking, as assessed by semi-quantitative food frequency questionnaire, four...
Inherited susceptibility is an important contributor to colorectal cancer risk, and rare variants in key genes or pathways could account part for the missing proportion of heritability.
Abstract Prostate cancer risk is influenced by rare and common germline variants. We examined the aggregate association of pathogenic/likely pathogenic/deleterious (P/LP/D) variants in ATM, BRCA2, PALB2, NBN with a polygenic score (PRS) on prostate among 1,796 cases (222 metastatic) 1,424 controls African ancestry. Relative to P/LP/D non-carriers at average genetic (33%–66% PRS), men low (0%–33%) high (66%–100%) PRS had Odds Ratios (ORs) for overall 2.08 [95% confidence interval (CI) =...
Oesophageal squamous cell carcinoma (OSCC) has a high prevalence in several countries Africa and Asia. Previous genome-wide association studies Chinese populations have identified OSCC susceptibility loci, including variants on chromosome 2q33 6p21, but the contribution of these loci to risk African is unknown. In this study we tested ten genetic at two South ethnic groups. Variants (rs3769823, rs10931936, rs13016963, rs7578456, rs2244438) 6p21 (rs911178, rs3763338, rs2844695, rs17533090,...
Colorectal cancer (CRC) is one of the most common types cancer, affecting 3 - 5% global population. K-ras protooncogene and TP53 tumour suppressor gene mutations are among genetic alterations detected in advanced colorectal tumours.To investigate role codon 12 exons 5 9 late-stage CRC patients.Blood samples were collected from 249 patients, whom 147 presented with carcinoma. analysed using polymerase chain reaction-restriction fragment length polymorphism, while direct sequencing was used...