A5040859580- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Adipose Tissue and Metabolism
- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- DNA Repair Mechanisms
- Epigenetics and DNA Methylation
- Molecular Biology Techniques and Applications
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Gene expression and cancer classification
- Hormonal Regulation and Hypertension
- Prostate Cancer Treatment and Research
- Renin-Angiotensin System Studies
- Genomics and Rare Diseases
- Metabolomics and Mass Spectrometry Studies
- Regulation of Appetite and Obesity
- Genomic variations and chromosomal abnormalities
- Forensic and Genetic Research
- Prostate Cancer Diagnosis and Treatment
- Global Cancer Incidence and Screening
- Health Policy Implementation Science
- Evaluation and Performance Assessment
- Cancer, Stress, Anesthesia, and Immune Response
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
University of Puerto Rico System
2023-2025
Ponce Health Sciences University
2015-2024
University of Puerto Rico at Ponce
2020-2023
Centre de Liaison Sur l'Intervention et la Prévention Psychosociales
2008-2019
MedStar Georgetown University Hospital
2018
Nueva Vida
2018
USC Norris Comprehensive Cancer Center
2018
The US Oncology Network
2018
Rayos Contra Cancer
2018
Georgetown University
2018
There is great scientific and popular interest in understanding the genetic history of populations Americas. We wish to understand when different regions continent were inhabited, where settlers came from, how current inhabitants relate genetically earlier populations. Recent studies unraveled parts using genotyping arrays uniparental markers. The 1000 Genomes Project provides a unique opportunity for improving our population by providing over hundred sequenced low coverage genomes exomes...
The population of Argentina is the result intermixing between several groups, including Indigenous American, European and African populations. Despite commonly held idea that mostly origin, multiple studies have shown this process admixture had an impact in entire Argentine population. In present study we characterized distribution ancestry among individuals from different regions evaluated level discrepancy self-reported grandparental origin genetic estimates. A set 99 autosomal informative...
Abstract Ancestrally diverse and admixed populations, including the Hispanic/Latino/a/x/e community, are underrepresented in cancer genetic/genomic studies. Leveraging Latino Colorectal Cancer Consortium (LC3) other existing datasets, we analyzed whole exome sequencing data on tumor/normal pairs from 718 individuals with colorectal to map somatic mutational features by ethnicity genetic similarity. Global proportions of African, Asian, European, Native American ancestries were estimated...
Abstract Multiple myeloma (MM) incidence, mortality, and survival vary by race ethnicity, but the causes of differences remain unclear. We investigated demographic, clinical, molecular features diverse MM patients to elucidate mechanisms driving clinical disparities. This study included 495 (self-reported Hispanic, n = 45; non-Hispanic Black, 52; White, 398). Hispanic Black individuals had an earlier age onset than White (53 57 vs 63 years, respectively, P < .001). There were no in...
Prostate cancer is the leading in incidence and second cause of mortality US men. African American men have significantly higher rates from prostate than European Previous studies reported that disparity survival or can be explained by different biological backgrounds. microRNAs (miRNAs) regulate gene expression their cognate mRNAs many cancers. Therefore, miRNAs may a potentially promising diagnostic tool. The role aggressiveness racial has not been fully established. goal this study to...
PURPOSE To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic the United States. METHODS In this cross-sectional study, unrelated a personal/family history suggestive of HBOC who received clinician-ordered multigene sequencing were grouped according to location ordering physician: group A, Mexico, Central America, Caribbean; B, South...
Estrogen-receptor-positive (ER+) tumors employ complex signaling that engages in crosstalk with multiple pathways through genomic and non-genomic regulation. A greater understanding of these is important for developing improved biomarkers can better determine treatment choices, risk recurrence cancer progression. Deficiencies DNA repair capacity (DRC) a hallmark breast (BC); therefore, this work we tested whether ER influences DRC. We analyzed the association between positivity (% receptor...
Breast cancer is the most common cause of diagnosis in women and responsible for considerable mortality among Puerto Rico. However, there are few studies Rico on genetic factors influencing risk. To determine contribution pathogenic mutations BRCA1 BRCA2, we sequenced these genes 302 cases from two separate medical centers, who were not selected age onset or family history. We identified nine that carriers germline mutation. This represents 2.9% unselected 5.6% meeting National Comprehensive...
Abstract Cancer is the leading cause of death in Puerto Rico (PR). Hurricane Maria (HM) and its aftermath lead to widespread devastation on island, including collapse healthcare system. Medically fragile populations, such as cancer survivors, were significantly affected. The goal this study was assess impact HM barriers care, emotional distress, inflammatory biomarkers among survivors PR. This exploratory longitudinal conducted health care facilities community support groups from (n = 50)...
Our previous linkage studies indicated that there might be a blood pressure (BP) quantitative trait locus (QTL) on chromosome 3 (Chr 3) contrasting between the Dahl salt-sensitive (S) strain and Lewis (LEW) strain. To prove then to narrow down segment containing this QTL, five congenic strains have been generated by replacing various segments of S rats with homologous LEW rats. They are designated as S.L1, S.L2, S.L3, S.L4, S.L5, respectively. S.L5 substrains i.e., they contain substitutions...
Previous studies have found a link between low DNA repair capacity (DRC) level and increased cancer risk. Our aim was to assess the statistical association of DRC breast (BC) using case–control epidemiological study in Hispanic community. We conducted comparative observational validity detecting BC 824 women throughout Puerto Rico. Over 6-year period, we compared 285 newly diagnosed with 539 without BC. levels were measured lymphocytes by means host-cell reactivation assay. assessed...
Objective To localize quantitative trait loci (QTL) in an animal model that is potentially relevant to human hypertension. Design and methods Four congenic strains have been constructed by replacing various segments of the Dahl salt-sensitive (S) rat those Lewis (LEW) rat. A marker-assisted approach was employed facilitate this process. When these were established, their blood pressures (BPs) measured telemetry compared with S Moreover, a search conducted find possible intermediate...
Our previous linkage analyses showed that there was likely a quantitative trait locus (QTL) for blood pressure (BP) on chromosome 8 (Chr 8) in the strain comparison between Dahl salt-sensitive (S) and Lewis (LEW) rats. The current work is to delineate interval harboring this QTL by using congenic strains with different substitutions.Two were produced replacing segments of S rats homologous LEW A genome-wide marker screening utilized accelerate process. two generated are designated as C8S.L1...
Inherited pathogenic variants in genes that confer moderate to high risk of breast cancer may explain up 50% familial cancer. This study aimed at identifying inherited cases from Puerto Rico were not linked BRCA1 or BRCA2. Forty-eight patients met the clinical criteria for BRCA testing but had received a negative BRCA1/2 result recruited. Fifty-three previously implicated hereditary predisposition captured using BROCA Agilent panel followed by massively parallel sequencing. Missense...
Abstract Latinas are less likely to participate in genetic counseling (GC) and testing (GT) than non‐Hispanic Whites. A multisite, randomized pilot study tested a culturally targeted educational intervention increase uptake of GC/GT among Latina breast cancer (BC) survivors ( N = 52). Participants were recruited Tampa, FL Ponce, PR to: (a) fact sheet about BC survivorship (control) or (b) booklet (intervention). the condition also offered no‐cost telephone GC followed by free GT with...
Our previous work demonstrated 2 quantitative trait loci (QTLs), C2QTL1 and C2QTL2, for blood pressure (BP) located on chromosome (Chr) of Dahl salt-sensitive (DSS) rats. However, a lack markers, the congenic strains delineating C2QTL2 could not be separated. The position was only inferred by comparing strains, one having another lacking BP effect. Furthermore, it known how adjacent QTLs would interact with Chr 2. In current investigation, first, critical marker developed to separate C2QTLs....