A5028111372- Nutritional Studies and Diet
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Forensic and Genetic Research
- Genetic factors in colorectal cancer
- Genomics and Phylogenetic Studies
- Medicine and Dermatology Studies History
- Nonmelanoma Skin Cancer Studies
- RNA modifications and cancer
- Genetic diversity and population structure
- Nutrition, Genetics, and Disease
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- Genetic Associations and Epidemiology
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- RNA and protein synthesis mechanisms
- Epigenetics and DNA Methylation
- Forensic Anthropology and Bioarchaeology Studies
Vanderbilt University Medical Center
2024
Vanderbilt University
2022
Memorial Sloan Kettering Cancer Center
2020
Ponce Health Sciences University
2015-2018
University of Puerto Rico-Mayaguez
2017
Arizona State University
2017
Despite advances in DNA sequencing technology and expanded medical guidelines, the vast majority of individuals carrying pathogenic variants common cancer susceptibility genes have yet to be identified. An alternative population-wide genetic screening healthy would exploit trend for testing at time diagnosis guide therapy prevention, combined with augmented familial diffusion or "cascade" genomic risk information.
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 Background: Lung cancer risk attributable to smoking is dose dependent, yet few studies examining a polygenic score (PRS) by interaction have included comprehensive lifetime pack-years smoked. Methods: We analyzed data from participants of European ancestry in the Framingham Heart Study Original (n = 454) and Offspring 2,470) cohorts enrolled 1954 1971, respectively, followed through 2018. built PRS for lung using participant genotyping genome-wide association study summary...
Abstract Microsatellite instability (MSI) is detected in approximately 15% of colorectal cancers (CRCs). WD40 and tetratricopeptide repeats 1 (WDTC1) frequently mutated MSI CRC, indicating that it may contribute to CRC development. However, the functional evidence role WDTC1 development remains unknown. Herein, we conducted vitro assays examine function using knockdown experiments three cell lines, SW480, CACO2, LoVo. We provided strong silencing significantly suppressed proliferation,...
Maternal lineages of West Eurasian and North African origin account for 11.5% total mitochondrial ancestry in Puerto Rico. Historical sources suggest that this arrived mostly from European migrations took place during the four centuries Spanish colonization This study analyzed 101 control region sequences diagnostic coding variants a sample set randomly systematically selected using census-based sampling frame to be representative Rican population, with goal defining Eurasian-North maternal...
<p>Supplemental Figure 4: Overlaid histograms showing the distribution of polygenic risk scores by case/non-case status</p>
<p>Supplemental Figure 1: Sample timeline of data collection, timing examinations (i.e., when smoking status is updated), and lung cancer incidence in an FHS Offspring participant who attended 9 was diagnosed with 2001.</p>
<div>AbstractBackground:<p>Lung cancer risk attributable to smoking is dose dependent, yet few studies examining a polygenic score (PRS) by interaction have included comprehensive lifetime pack-years smoked.</p>Methods:<p>We analyzed data from participants of European ancestry in the Framingham Heart Study Original (<i>n</i> = 454) and Offspring 2,470) cohorts enrolled 1954 1971, respectively, followed through 2018. We built PRS for lung using participant...
<div>AbstractBackground:<p>Lung cancer risk attributable to smoking is dose dependent, yet few studies examining a polygenic score (PRS) by interaction have included comprehensive lifetime pack-years smoked.</p>Methods:<p>We analyzed data from participants of European ancestry in the Framingham Heart Study Original (<i>n</i> = 454) and Offspring 2,470) cohorts enrolled 1954 1971, respectively, followed through 2018. We built PRS for lung using participant...
<p>Supplemental Figure 2: Overlaid histograms of pack-years smoked by smoking status. This plot shows that currently individuals tended to incur more than formerly individuals.</p>
<p>Supplemental Figure 2: Overlaid histograms of pack-years smoked by smoking status. This plot shows that currently individuals tended to incur more than formerly individuals.</p>
<p>Supplemental Figure 1: Sample timeline of data collection, timing examinations (i.e., when smoking status is updated), and lung cancer incidence in an FHS Offspring participant who attended 9 was diagnosed with 2001.</p>
<p>Supplemental Figure 3: PRS Model fit by p-value threshold. High resolution plots displaying the -log10(p-value) of association between lung cancer and in FHS sample (y-axis) versus threshold below which all SNPs with p-values for their individual base (OncoArray Consortium) were included (x-axis).</p>
<p>Supplemental Figure 4: Overlaid histograms showing the distribution of polygenic risk scores by case/non-case status</p>
<p>Supplemental Figure 3: PRS Model fit by p-value threshold. High resolution plots displaying the -log10(p-value) of association between lung cancer and in FHS sample (y-axis) versus threshold below which all SNPs with p-values for their individual base (OncoArray Consortium) were included (x-axis).</p>
Abstract Introduction: The incidence and clinical presentation of Basal-cell carcinoma (BCC) vary among different ethnic subgroups. In the Hispanic population Puerto Rico, contribution genetic ancestral factors in determining BCC risk its is unknown. Methods: study consists 83 skin cancer cases 89 controls recruited from a private dermatology practice Ponce, Rico. A panel 106 ancestry informative markers was genotyped using iPLEX Sequenom technology. Individual estimated maximum likelihood...
Maternal lineages of West Eurasian and North African origin account for 11.5% total mitochondrial ancestry in Puerto Rico. Historical sources suggest that this arrived mostly from European migrations took place during the four centuries Spanish colonization This study analyzed 101 control region sequences diagnostic coding variants a sample set randomly systematically selected using census-based sampling frame to be representative Rican population, with goal defining Eurasian–North maternal...