Ana P. Estrada-Florez
A5026895442- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Global Cancer Incidence and Screening
- Genetic factors in colorectal cancer
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Gastric Cancer Management and Outcomes
- Genetic Associations and Epidemiology
- Thyroid Cancer Diagnosis and Treatment
- DNA Repair Mechanisms
- Genetics, Bioinformatics, and Biomedical Research
- Helicobacter pylori-related gastroenterology studies
- Cancer-related gene regulation
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Cancer Risks and Factors
- Cancer-related Molecular Pathways
- HIV/AIDS oral health manifestations
- Colorectal Cancer Treatments and Studies
- Molecular Biology Techniques and Applications
- Health, Environment, Cognitive Aging
- Digestive system and related health
- Race, Genetics, and Society
- Parasitic Diseases Research and Treatment
- Retinopathy of Prematurity Studies
University of California, Davis
2017-2025
University of Tolima
2014-2022
Huntsman Cancer Institute
2022
Universidad Alas Peruanas
2020
University of Caldas
2019
University of Colorado Denver
2016
The Ohio State University
2015
Abstract The genetic contributions to breast cancer development among Latinas are not well understood. Here we carry out a genome-wide association study of in and identify significant risk variant, located 5′ the Estrogen Receptor 1 gene ( ESR1 ; 6q25 region). minor allele for this variant is strongly protective (rs140068132: odds ratio (OR) 0.60, 95% confidence interval (CI) 0.53–0.67, P =9 × 10 −18 ), originates from Indigenous Americans uncorrelated with previously reported variants at...
More than 180 single nucleotide polymorphisms (SNPs) associated with breast cancer susceptibility have been identified; these SNPs can be combined into polygenic risk scores (PRS) to predict risk. Because most were identified in predominantly European populations, little is known about the performance of PRS non-Europeans. We tested a 180-SNP Latinas, large ethnic group variable levels Indigenous American, European, and African ancestry.We conducted pooled case-control analysis US Latinas...
Women of Latin American origin in the United States are more likely to be diagnosed with advanced breast cancer and have a higher risk mortality than non-Hispanic White women. Studies U.S. Latinas women reported high incidence HER2 positive (+) tumors; however, factors contributing this observation unknown. Genome-wide genotype data for 1,312 patients from Peruvian Genetics Genomics Breast Cancer Study (PEGEN-BC) were used estimate genetic ancestry. We tested association between status...
<p>Supplemental Figure S2 shows performance of PRS panels with addition 2 or 3 H/L SNPs</p>
<p>Supplemental Figure S6 shows performance of PRS panels in H/L samples excluding discovery GWAS.</p>
<p>Supplemental Figure S3 shows performance of combinations European and Asian PRS panels in H/L samples.</p>
<p>Supplemental Figure S4 shows effect of adding only one H/L SNP to European PRS panels on performance in samples.</p>
<p>Supplemental Figure S1 shows global ancestry distribution of individuals by countries across seven studies included in this analysis.</p>
<p>Supplemental Table S2 shows performance of PRS panels constructed from PRS3820 European panel plus 2 H/L SNPs using different imputation r2 cutoffs.</p>
<p>Supplemental Table S3 shows sample sizes in the Indigenous American ancestry ranges selected for our analysis.</p>
<p>Supplemental Table S4 shows a list of polymorphisms in the PRS panels with association analyses summary statistics from 7 pooled Hispanic/Latino datasets.</p>
<p>Supplemental Figure S5 shows effect of adding only one H/L SNP to Asian PRS panels on performance in samples.</p>
<p>Supplemental Table S7 shows comparisons of performance for the PRS panel pairs in different ranges Indigenous American (IA) ancestry.</p>
<p>Supplemental Figure S7 shows performance of PRS panels in H/L samples with matched age cases and controls.</p>
<p>Supplemental Table S8 shows comparisons of performance the PRS panel for different pair ranges Indigenous American (IA) ancestry.</p>
<p>Supplemental Table S5 shows Comparisons of Areas under the receiver operating characteristics curve (AUC) and odd ratios (OR) per standard deviation PRS panels.</p>
<p>Supplemental Table S6 shows two-sided Hosmer-Lemeshow P values for calibration of the PRS panels tested in our datasets.</p>
<div>AbstractBackground:<p>A substantial portion of the genetic predisposition for breast cancer is explained by multiple common variants relatively small effect. A subset these variants, which have been identified mostly in individuals European (EUR) and Asian ancestries, combined to construct a polygenic risk score (PRS) predict risk, but prediction accuracy existing PRSs Hispanic/Latinx (H/L) remain low. We assessed performance several PRS panels with without addition...
<p>Supplemental Table S1 shows description of the existing and modified PRS panels evaluated in our studies.</p>
<p>Supplemental Table S9 shows variants in European or Asian PRS panels with high linkage disequilibrium (LD) rs851980</p>
Abstract The purpose of this study is to describe Chilean families having hereditary Gastric Cancer (GC) presenting pathogenic mutations in BRCA 2 (c.4740_4741dup NP_000050.3:p.Glu1581fs), ATM (c.3381_3384del NP_000042.3:p.Gln1128fs) and Protector Telomers 1 (POT1, 1087C&gt;T:p.Arg363Ter) genes. Only one diffuse GC (HDGC) family with a CDH1 mutation has been reported, suggesting low frequency detection population. Whole exome sequencing (WES) was performed using the Agilent SureSelect...
A recent study reported the non-synonymous G534E (rs7080536, allele A) variant in HABP2 gene as causal familial non-medullary thyroid cancer (NMTC).The objective of this was to evaluate causality TCUKIN study, a multi-center population based NMTC cases from British Isles.A case-control analysis rs7080536 genotypes performed using 2,105 and 5,172 UK controls.Cases comprised cases. Patients sub-groups with papillary (N=1,056), follicular (N=691) Hurthle cell (N=86) TC were studied separately....
The G allele of the rs6983267 single-nucleotide polymorphism, located on chromosome 8q24, has been associated with increased risk several cancer types. association between rs6983267G and thyroid (TC) tested in different populations, mostly European ancestry, led to inconclusive results. While significant associations have reported British Polish no detected populations from Spain, Italy USA. To further investigate role TC susceptibility, we evaluated genotypes three continental ancestry...
Thyroid cancer (TC) is the second most common among Hispanic women. Recent genome-wide association (GWA) and candidate studies identified 6 single nucleotide polymorphisms (SNPs; rs966423, rs2439302, rs965513, rs6983267, rs944289, rs116909374), associated with increased TC risk in Europeans but their effects on disease have not been comprehensively tested Hispanics. In this study, we aimed to describe main clinicopathological manifestations evaluate of known SNPs a population. We analyzed...