Ignacio Briceño
A5072637040- Forensic and Genetic Research
- BRCA gene mutations in cancer
- Forensic Anthropology and Bioarchaeology Studies
- Nutrition, Genetics, and Disease
- Genetic Associations and Epidemiology
- Medical research and treatments
- Folate and B Vitamins Research
- T-cell and B-cell Immunology
- Cleft Lip and Palate Research
- Psidium guajava Extracts and Applications
- Spondyloarthritis Studies and Treatments
- History and Politics in Latin America
- dental development and anomalies
- Cervical Cancer and HPV Research
- Immune Cell Function and Interaction
- Craniofacial Disorders and Treatments
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Cancer Research and Treatments
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Rheumatoid Arthritis Research and Therapies
- Genetics and Neurodevelopmental Disorders
- Growth Hormone and Insulin-like Growth Factors
- Cuban History and Society
Universidad de La Sabana
2015-2024
Pontificia Universidad Javeriana
2013-2023
University of Manchester
2021
St Mary's Hospital
2021
Edinburgh Cancer Research
2021
Cancer Research Center
2021
Newcastle University
1995-1999
Genetic testing for breast cancer susceptibility is widely used, but many genes, evidence of an association with weak, underlying risk estimates are imprecise, and reliable subtype-specific lacking.
Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes unclear. This information is relevant guidelines for gene panel testing and risk prediction.To characterize tumors BC susceptibility large-scale population- or hospital-based studies.The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients 46 387 control participants, comprising women...
Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks missense these genes uncertain. We analyzed data on 59,639 cases 53,165 controls from studies participating the Breast Cancer Association Consortium BRIDGES project. sampled training (80%) validation (20%) sets to analyze rare ATM (1146 variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), (472). evaluated according five silico prediction-of-deleteriousness algorithms,...
Abstract We examined mitochondrial DNA (mtDNA) haplogroup and haplotype diversity in 188 individuals from three Chibchan (Kogi, Arsario, Ijka) populations one Arawak (Wayuú) group northeast Colombia to determine the biological relationship between lower Central American northern South speakers. mtDNA haplogroups were obtained for all HVS‐I sequence data 110 samples. Resulting compared 16 other Caribbean, South, using measures, neutrality test statistics, sudden spatial mismatch models,...
Objectives: To determine the African, European and Native-American paternal contributions in genetic samples from Department of Bolivar (Colombia) with aims establishing (1) possible population substructures, (2) proportion biological African heritage admixed populations European, Amerindian, descent.Methods: Y-SNPs were typed six communities, including Palenque (renowned for its linguistic cultural heritage).Results: Findings reveal a high diversity Y-haplogroups. With exception Palenque,...
Abstract Breast cancer is a group of multigenic diseases. It the most common diagnosed among women worldwide and often treated with tamoxifen. Tamoxifen catalysed by cytochrome P450 2D6 (CYP2D6), inter-individual variations in enzyme due to single nucleotide polymorphisms (SNPs) could alter activity. We evaluated SNPs patients from Colombia South America who were receiving tamoxifen treatment for breast cancer. Allelic diversity CYP2D6 gene was found studied population, two displaying...
Abstract Previous transcriptome‐wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome‐wide (GWAS), but analyses of subtype‐specific associations been limited. In this study, we conducted a TWAS using gene GTEx summary statistics the hitherto largest GWAS meta‐analysis for overall, estrogen receptor subtypes (ER+ ER−). We further compared with ER+ ER− subtypes, case‐only approach. also multigene conditional in...
Abstract Background: It is not known whether modifiable lifestyle factors that predict survival after invasive breast cancer differ by subtype. Methods: We analyzed data for 121,435 women diagnosed with from 67 studies in the Breast Cancer Association Consortium 16,890 deaths (8,554 specific) over 10 years. Cox regression was used to estimate associations between risk and 10-year all-cause mortality cancer–specific overall, estrogen receptor (ER) status, intrinsic-like Results: There no...
Abstract Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women European ancestry. Characterization in other ethnic groups is also medically important. We comprehensively screened 68 Colombian breast/ovarian families for small-range mutations, 221 large-genomic rearrangements, 1,022 unselected cases founder . The risk among relatives mutation carriers the penetrance were estimated by survival analysis. Identified BRCA2 included 6310delGA recurrent...
High prevalences of human T-lymphotropic virus type II (HTLV-II) infection have been found recently among certain Amerindian groups in North, Central, and South America. To determine if the Amerindians Colombia are similarly affected, 523 sera, collected between 1987 1990 from nine culturally distinct Indian widely separated regions, were tested for IgG antibodies against HTLV-I/II using enzyme-linked immunosorbent assay (ELISA) Western blot. In addition, 243 sera five non-Indian (black)...
The people of Tumaco‐La Tolita culture inhabited the borders present‐day Colombia and Ecuador. Already extinct by time Spaniards arrival, they left a huge collection pottery artifacts depicting everyday life; among these, disease representations were frequently crafted. In this article, we present results personal examination largest collections in Ecuador; cases Down syndrome, achondroplasia, mucopolysaccharidosis I H, IV, tumor face benign an old woman found. We believe these to be...
Ancient DNA was recovered from 17 individuals found in a rock shelter the district of "La Purnia" (Santander, Colombia). This region is homeland pre-Columbian Guane, whom spread over "Río Suarez" to de Oro", and were surrounded west by Central Andes, south east foothills Eastern north "Chicamocha" river canyon. Guanes established that straddles Andes northern Amazon basin, possibly making it an unavoidable conduit for people moving South America. We amplified mtDNA hypervariable I (HVI)...
Abstract Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting an isolated phenotype, distinguished from the largely monogenic, syndromic forms include clefts among spectrum of phenotypes. has been shown to arise through complex interactions between genetic and environmental factors. However, there increasing evidence that broad NSCLP classification may proportion cases showing familial patterns inheritance contain highly penetrant...
Abstract Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, features, is a syndrome resulting from heterozygous variants in the dosage‐sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals NEDDFL due to de novo have been described. expand phenotypic spectrum, we describe clinical features 25...
Predict Breast (www.predict.nhs.uk) is an online prognostication and treatment benefit tool for early invasive breast cancer. The aim of this study was to incorporate the prognostic effect progesterone receptor (PR) status into a new version PREDICT compare its performance current (2.2).