Diana Torres
A5065746909- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Genomics and Chromatin Dynamics
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Breast Cancer Treatment Studies
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Cancer Risks and Factors
- Bioinformatics and Genomic Networks
- Genomic variations and chromosomal abnormalities
- Knowledge Societies in the 21st Century
- Cancer-related molecular mechanisms research
- Metabolism, Diabetes, and Cancer
- Gene expression and cancer classification
- Ovarian cancer diagnosis and treatment
- Engineering and Information Technology
- Esophageal and GI Pathology
- Cancer-related Molecular Pathways
- CRISPR and Genetic Engineering
- Cancer Immunotherapy and Biomarkers
- Genomics and Rare Diseases
- HER2/EGFR in Cancer Research
Asociación Colombiana de Gastroenterología
2024
Universidad San Francisco de Quito
2024
Philipps University of Marburg
2024
German Cancer Research Center
2014-2023
Heidelberg University
2014-2023
Pontificia Universidad Javeriana
2013-2022
Universidad Técnica de Ambato
2021
ORCID
2021
Cancer Research Center
2015-2021
University of Manchester
2021
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 the risk of female cancer rs1314913 male cancer. The aim this study was investigate role RAD51B variants in predisposition, particularly context familial Finland. We sequenced coding region 168 Finnish patients from Helsinki for identification possible recurrent founder mutations. In addition, we studied known rs999737, rs2588809, SNPs haplotypes 44,791 cases 43,583 controls 40...
Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.
The prevalence and spectrum of germline mutations in BRCA1 BRCA2 have been reported single populations, with the majority reports focused on White Europe North America. Consortium Investigators Modifiers BRCA1/2 (CIMBA) has assembled data 18,435 families 11,351 ascertained from 69 centers 49 countries six continents. This study comprehensively describes characteristics 1,650 unique 1,731 deleterious (disease-associated) identified CIMBA database. We observed substantial variation mutation...
Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased postmenopausal women. It unclear whether this association mediated through shared genetic or environmental factors.
To provide precise age-specific risk estimates of cancers other than female breast and ovarian associated with pathogenic variants (PVs) in
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...
Triple-negative (TN) breast cancer is an aggressive subtype of associated with a unique set epidemiologic and genetic risk factors. We conducted two-stage genome-wide association study TN (stage 1: 1529 cases, 3399 controls; stage 2: 2148 1309 controls) to identify loci that influence risk. Variants in the 19p13.1 PTHLH showed significant associations (P < 5 × 10−8) 1 2 combined. Results also suggested substantial enrichment significantly variants among single nucleotide polymorphisms (SNPs)...
<h3>Background</h3> BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family DNA repair proteins. Biallelic mutations in <i>BRIP1</i> are responsible for FANC J, and previous studies have also suggested that rare truncating variants associated with an increased risk breast cancer. These led to inclusion on targeted sequencing panels cancer prediction. <h3>Methods</h3> We evaluated a variant, p.Arg798Ter (rs137852986), 10...
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 Although probiotics are beginning to enter mainstream medicine for disorders of the colon, their effects on small bowel remain largely unexplored. We investigated recently identified probiotic, Lactobacillus fermentum (L. fermentum) BR11 (BR11) and prebiotic, fructo-oligosaccharide (FOS), both individually in synbiotic combination, potential alleviate intestinal mucositis. From Days 0–9, rats consumed skim milk (SM; saline + SM), low dose (LD-BR11; 1 × 10 6 cfu/ml), high (HD-BR11; 9...
The aim of this study was to evaluate the effects metformin in addition diet and exercise on endocrine metabolic disturbances women with polycystic ovary syndrome (PCOS) a prospective, double-blind, randomized, placebo (PBO) control trial. Thirty insulin resistance PCOS received lifestyle modification 1500 mg or for 4 months. Before after treatment, body mass index, waist/hip ratio, blood pressure, hirsutism, menstrual patterns were evaluated. Serum concentrations gonadotropins, androgens,...
Abstract Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. These polymorphisms were genotyped in more than 30,000 cases controls, primarily of European descent, from 30 Breast Cancer Association Consortium. We calculated odds ratios (OR) 95% confidence intervals (95% CI) as a measure association. found these...
// Yosr Hamdi 1,* , Penny Soucy Véronique Adoue 2,3,4 Kyriaki Michailidou 5,6 Sander Canisius 7 Audrey Lemaçon 8 Arnaud Droit Irene L Andrulis 9,10 Hoda Anton-Culver 11 Volker Arndt 12 Caroline Baynes 13 Carl Blomqvist 14 Natalia V. Bogdanova 15,16 Stig E. Bojesen 17,18,19 Manjeet K. Bolla 5 Bernardo Bonanni 20 Anne-Lise Borresen-Dale 21 Judith S. Brand 22 Hiltrud Brauch 23,24,25 Hermann Brenner 12,25,26 Annegien Broeks Barbara Burwinkel 27,28 Jenny Chang-Claude 29,30 NBCS...
Intestinal mucositis is a common and debilitating side-effect of chemotherapy, associated with severe small intestinal inflammation. Marine oils, such as Lyprinol, lipid extract derived from New Zealand Green-lipped Mussels, rich in long-chain omega-3 polyunsaturated fatty acids (n-3 PUFA), have demonstrated therapeutic potential for the treatment inflammatory conditions. We assessed effects Lyprinol on severity 5-fluorouracil (5-FU)-induced female Dark Agouti rats.Small weight was...
Abstract The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy predisposition to cancer. Amplification of has been detected at higher frequency in tumors from BRCA1 BRCA2 mutation carriers than sporadic breast tumors, suggesting that overexpression inactivation cooperate during tumor development progression. F31I polymorphism cancer risk the homozygous state prior studies. We evaluated whether modifies Consortium Investigators Modifiers BRCA1/2. BRCA1/2 was...
Abstract Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 using custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 in more than 89,000 participants European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, 53 Kb...
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).
Large population-based registry studies have shown that breast cancer prognosis is inherited. Here we analyse single-nucleotide polymorphisms (SNPs) of genes implicated in human immunology and inflammation as candidates for prognostic markers survival involving 1,804 oestrogen receptor (ER)-negative patients treated with chemotherapy (279 events) from 14 European a prior large-scale genotyping experiment, which part the Collaborative Oncological Gene-environment Study (COGS) initiative. We...
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in 900kb region (120,505,799–121,481,132) flanking 45,276 cases and 48,998 controls European, Asian African ancestry from 50 studies the Breast Association Consortium. Genotyping was done using iCOGS, custom-built array. Due to complicated nature on...
Abstract We complement recent work of Gallardo, Pearlstein, Schaffler, and Zhang, showing that the stable surfaces with they construct are indeed only ones arising from imposing an exceptional unimodal double point. In addition, we explicitly describe birational type constructed singularities , .