“Este contenido se encuentra unicamente en inglés”
- María Evangelina López de Maturana
- María Esther Molina
- Silvia Pineda
- Alberto Langtry
Técnicos de Laboratorio
- María Dolores Alonso
The scope of the research carried out by the Genetics and Molecular Epidemiology Group (GMEG) ranges from the identification of aetiological agents and mechanisms to the translation of the findings into the clinical and Public Health domains, focusing on bladder, pancreatic, and breast cancers.
We employ a wide variety of biomarkers to better characterise exposures, genetic susceptibility patterns, and cancer outcomes. Omics data provide a unique opportunity in this regard and the Group explores its integration in epidemiological studies.
The strategic goals of the Group are to:
- Identify non-genetic and genetic factors, as well as their interactions, associated with cancer development and progression and with its molecular/omics subphenotypes.
- Develop and apply statistical/informatics tools to model the risk, prediction, and clinical course of patients with cancer by integrating epidemiologic with omics information.
- Assess clinical and public health strategies for cancer control using current genomic tests and data.
- Pancreatic cancer and autoimmune diseases: An association sustained by computational and epidemiological case-control approaches(2019)
Int J Cancer 144, 1540-1549.
- Resection of pancreatic cancer in Europe and USA: an international large-scale study highlighting large variations(2019)
Gut 68, 130-139.
- Cdk4/6-inhibition induces bladder cancer regression independently of RB1 gene status(2019)
Clin Cancer Res 25, 390-402.
- Challenges in the Integration of Omics and Non-Omics Data(2019)
Genes 10, E238-.
- Reply to ‘Mosaic loss of chromosome Y in leukocytes matters’(2019)
Nat Genet 51, 7-9.
- Ambient air pollution and incident bladder cancer risk: Updated analysis of the Spanish Bladder Cancer Study(2019)
Int J Cancer (in press).
- Transcriptional regulation by NR5A2 links differentiation and inflammation in the pancreas(2018)
Nature 554, 533-537.
- Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer(2018)
Nat Commun 9, 556-.
- CDK4/6 Inhibitor as a Novel Therapeutic Approach for Advanced Bladder Cancer Independently of RB1 Status.(2018)
Clin Cancer Res (in press).
- Molecular Markers Increase Precision of the European Association of Urology Non-Muscle-Invasive Bladder Cancer Progression Risk Groups(2018)
Clin Cancer Res 24, 1586-1593.
- Risk of pancreatic cancer associated with family history of cancer and other medical conditions by accounting for smoking among relatives(2018)
Int J Epidemiol 47, 473-483.
- Asthma status is associated with decreased risk of aggressive urothelial bladder cancer(2018)
Int J Cancer 42, 470-476.
- Response to: Variation of the age at onset of pancreatic cancer according to tobacco smoking and family history(2018)
Int J Epidemiol 47, 1358-1359.
- The additive effect of adherence to multiple healthy lifestyles on subclinical atherosclerosis: Insights from the AWHS(2018)
J Clin Lipidol 12, 615-625.
- Association study of dietary non-enzymatic antioxidant capacity (NEAC) and colorectal cancer risk in the Spanish Multicase-Control Cancer (MCC-Spain) study(2018)
Eur J Nutr (in press).
- Recurrence, progression and cancer-specific mortality according to stage at re-TUR in T1G3 bladder cancer patients treated with BCG: not as bad as previously thought(2018)
World J Urol 36, 1621-1627.
- Predictors of oncological outcomes in T1G3 patients treated with BCG who undergo radical cystectomy(2018)
World J Urol 36, 1775-1781.
- Bladder Cancer Genetic Susceptibility. A Systematic Review(2018)
Bladder Cancer 4, 215-226.
- Comparison of the Dietary Antioxidant Profiles of 21 a priori Defined Mediterranean Diet Indexes(2018)
J Acad Nutr Diet 118, 2254-2268.
- Prognostic impact of a 12-gene progression score in non-muscle invasive bladder cancer: a prospective multicenter validation study.(2017)
Eur Urol 72, 461-469.
- Reduced risk of pancreatic cancer associated with asthma and nasal allergies.(2017)
Gut 66, 314-322.
- GATA6 regulates EMT and tumour dissemination, and is a marker of response to adjuvant chemotherapy in pancreatic cancer.(2017)
Gut 66, 1665-1676.
- A systems approach identifies time-dependent associations of multimorbidities with pancreatic cancer risk.(2017)
Ann Oncol 28, 1618-1624.
- FGFR3, TERT and OTX1 as a urinary biomarker combination for surveillance of patients with bladder cancer in a large prospective multicenter study(2017)
J Urology 197, 1410-1418.
- Validation of a DNA methylation-mutation urine assay to select patients with hematuria for cystoscopy.(2017)
J Urology 197, 590-595.
- Resection of pancreatic cancer in Europe and USA: an international large-scale study highlighting large variations.(2017)
Gut (in press).
- Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis(2017)
Gut (in press).
- Cured meat intake is associated with worsening asthma symptoms.(2017)
Thorax 72, 206-212.
- Differential ß-glucosidase expression as a function of carbon source availability in Talaromyces amestolkiae: a genomic and proteomic approach.(2017)
Biotechnol Biofuels 10, 161-0.
- Mediterranean diet and risk of pancreatic cancer in the European Prospective Investigation into Cancer and Nutrition cohort.(2017)
Br J Cancer 116, 811-820.
- Identification and replication of the interplay of four genetic high risk variants for urinary bladder cancer.(2017)
Carcinogenesis 38, 1167-1179.
- Clinical markers of asthma and IgE assessed in parents before conception predict asthma and hayfever in the offspring.(2017)
Clin Exp Allergy 47, 627-638.
- Large-scale SRM screen of urothelial bladder cancer candidate biomarkers in urine(2017)
J Proteome Res 6, 1617-1631.
- Serum cytokine profiles as predictors of asthma control in adults from the EGEA study.(2017)
Resp Med 125, 57-64.
- Use of big data for drug development and for public and personal health and care.(2017)
Genet Epidemiol 41, 51-60.
- Integrative eQTL – analysis of omics data generated in tumor tissue and blood samples in individuals with bladder cancer(2017)
Genet Epidemiol 41, 567-573.
- Cancer Genomics and Public Health.(2017)
Public Health Genomics 20, 67-69.
- Genomics in primary and secondary prevention of pancreatic cancer(2017)
Public Health Genomics 20, 92-99.
- DoriTool: A bioinformatics integrative tool for post-association functional annotation(2017)
Public Health Genomics 20, 126-135.
- Genes Interacting with Occupational Exposures to Low Molecular Weight Agents and Irritants on Adult-Onset Asthma in Three European Studies(2017)
Environ Health Perspect. 125, 207-2014.
- Mosaic loss of chromosome Y is associated with common variation near TCL1A.(2016)
Nat Genet 48, 563-568.
- Comprehensive Transcriptional Analysis of Early-Stage Urothelial Carcinoma.(2016)
Cancer Cell 30, 27-42.
- Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.(2016)
Nat Communications 7, 11843-.
- Inflammatory-Related Genetic Variants in Non-Muscle-Invasive Bladder Cancer Prognosis: A Multimarker Bayesian Assessment.(2016)
Cancer Epidem Biomar 25, 1144-1150.
- FGFR3, TERT and OTX1 as urinary biomarker combination for surveillance of bladder cancer patients in a large prospective multicenter study.(2016)
J Urology (in press).
- Prediction of non-muscle invasive bladder cancer outcomes assessed by innovative multimarker prognostic models.(2016)
Bmc Cancer 16, 351-.
- Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors.(2016)
Nat Genet 48, 1330-1338.
- Development and Validation of Urine-based Peptide Biomarker Panels for Detecting Bladder Cancer in a Multi-center Study.(2016)
Clin Cancer Res 22, 4077-4086.
- Winner’s curse correction and variable thresholding improve performance of polygenic risk modeling based on genome-wide association study summary-level data.(2016)
PLoS Genet 12, e1006493-.
- Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry.(2016)
Hum Mol Genet 25, 1203-1214.
- Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21.(2016)
Oncotarget 7, 66328-66343.
- The impact of re-transurethral resection on clinical outcomes in a large multicentre cohort of patients with T1 high-grade/Grade 3 bladder cancer treated with bacille Calmette-Guérin.(2016)
BJU Int 118, 44-52.
- Non-enzymatic antioxidant capacity (NEAC) estimated by two different dietary assessment methods and its relationship with NEAC plasma levels.(2016)
Eur J Nutr (in press).
- Women using bleach for home cleaning are at increased risk of non-allergic asthma.(2016)
Resp Med 117, 264-271.
- Toward the integration of Omics data in epidemiological studies: still a “long and winding road”.(2016)
Genet Epidemiol 40, 558-569.
- The efficacy of BCG TICE and BCG Connaught in a cohort of 2,099 patients with T1G3 non-muscle-invasive bladder cancer.(2016)
Urol Oncol-Semin Ori 34, 484.e19-484.e25..
- Combining Decision Rules from Classification Tree Models and Expert Assessment to Estimate Occupational Exposure to Diesel Exhaust for a Case-Control Study.(2016)
Ann Occup Hyg 60, 467-478.
- Reduced risk of pancreatic cancer associated with asthma and nasal allergies.(2015)
Gut (in press).
- Modification of Occupational Exposures on Bladder Cancer Risk by Common Genetic Polymorphisms.(2015)
J Natl Cancer I 107, djv223-.
- Identification of a Three-Biomarker Panel in Urine for Early Detection of Pancreatic Adenocarcinoma.(2015)
Clin Cancer Res 21, 3512-3521.
- Integration Analysis of Three Omics Data Using Penalized Regression Methods: An Application to Bladder Cancer.(2015)
PLoS Genet 11, e1005689-.
- PanGen-Fam: Spanish registry of hereditary pancreatic cancer.(2015)
Eur J Cancer 51, 1911-1917.
- Epidemiology of bladder cancer.(2015)
Hematol Oncol Clin N 29, 177-189.
- Framework for the Integration of Genomics, Epigenomics and Transcriptomics in Complex Diseases.(2015)
Hum Hered 79, 124-136.
- A Multicenter Trial Defining a Serum Protein Signature Associated with Pancreatic Ductal Adenocarcinoma.(2015)
Int J Proteomics 2015, 587250-.
- Prognostic factors and risk groups in T1G3 non-muscle-invasive bladder cancer patients initially treated with Bacillus Calmette-Guérin: results of a retrospective multicenter study of 2451 patients.(2015)
Eur Urol 67, 74-82.
- Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types.(2015)
J Natl Cancer I 107, djv279-.
- Urinary tract cancer survival in Europe 1999-2007: Results of the population-based study EUROCARE-5.(2015)
Eur J Cancer (in press).
- Nitrate in drinking water and bladder cancer risk in Spain.(2015)
Environ Res 137, 299-307.
- Circulating tumor cells (Ctc) and kras mutant circulating free Dna (cfdna) detection in peripheral blood as biomarkers in patients diagnosed with exocrine pancreatic cancer.(2015)
Bmc Cancer 15, 797-.
- Vitamin D metabolic pathway genes and pancreatic cancer risk.(2015)
PLoS ONE 10, e0117574-.
- A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium.(2014)
Hum Mol Genet 23, 1934-1946.
- FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.(2014)
Br J Cancer 110, 1088-1100.
- Identification of New Genetic Susceptibility Loci for Breast Cancer Through Consideration of Gene-Environment Interactions.(2014)
Genet Epidemiol 38, 84-93.
- Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.(2014)
Nat Genet 46, 994-1000.
- Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study.(2014)
Gut (in press).
- Telomerase reverse transcriptase promoter mutations in bladder cancer: high frequency across stages, detection in urine, and lack of association with outcome.(2014)
Eur Urol 65, 360-366.
- Inflammatory Biomarkers and Bladder Cancer Prognosis: A Systematic Review.(2014)
Eur Urol 66, 1078-1091.
- Next-generation Sequencing of Urologic Cancers: Next Is Now.(2014)
Eur Urol 66, 4-7.
- Transcriptome analysis of pancreatic cancer reveals a tumor suppressor function for HNF1A.(2014)
Carcinogenesis 35, 2670-2678.
- LINE-1 methylation in leukocyte DNA, interaction with phosphatidylethanolamine N-methyltransferase variants and bladder cancer risk.(2014)
Br J Cancer 110, 2123-2130.
- LINE-1 methylation in granulocyte DNA and trihalomethane exposure is associated with bladder cancer risk.(2014)
Epigenetics 9, 1532-1539.
- Genetic Variation in the TP53 Pathway and Bladder Cancer Risk. A Comprehensive Analysis.(2014)
PLoS ONE 9, e89952.-.
- Risk prediction scores for recurrence and progression of non-muscle invasive bladder cancer: an international validation in primary tumours.(2014)
PLoS ONE 9, e96849-.
- Whole Genome Prediction of Bladder Cancer Risk With the Bayesian LASSO.(2014)
Genet Epidemiol 38, 467-476.
- The 19q12 bladder cancer GWAS signal: association with cyclin E function and aggressive disease.(2014)
Cancer Res 74, 5808-5818.
- Genome-wide association study identifies multiple loci associated with bladder cancer risk.(2014)
Hum Mol Genet 23, 1387-1398.
- Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.(2014)
Hum Mol Genet 23, 6616-6633.
- Genome-wide interaction study of smoking and bladder cancer risk.(2014)
Carcinogenesis 35, 1737-1744.
- Next generation modeling in GWAS: comparing different genetic architectures.(2014)
Hum Genet 133, 1235-1253.
- Improving the transparency of prognosis research: the role of reporting, data sharing, registration, and protocols.(2014)
PLoS ONE 11, e1001671-.
- Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.(2013)
Nat Genet 45, 371-384.
- Genome-wide association studies identify four ER negative-specific breast cancer risk loci.(2013)
Nat Genet 45, 392-398.
- Large-scale genotyping identifies 41 new loci associated with breast cancer risk.(2013)
Nat Genet 45, 353-361.
- Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers.(2013)
Am J Hum Genet 92, 489-503.
- Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1.(2013)
Am J Hum Genet 93, 1046-1060.
- Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.(2013)
PLoS Genet 9, e1003173-.
- Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.(2013)
Nat Genet 45, 1464-1469.
- Common genetic polymorphisms modify the effect of smoking on absolute risk of bladder cancer.(2013)
Cancer Res 73, 2211-2220.
- Genetic and Non-genetic Predictors of LINE-1 Methylation in Leukocyte DNA.(2013)
Environ Health Persp 121, 650-656.
- Bladder cancer and seroreactivity to BK, JC and Merkel cell polyomaviruses: The Spanish bladder cancer study.(2013)
Int J Cancer 133, 597-603.
- ARID1A alterations are associated with FGFR3-wild type, poor-prognosis, urothelial bladder tumors.(2013)
PLoS ONE 8, e62483-.
- Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk.(2013)
PLoS ONE 8, e83745-.
- EU Pancreas: An Integrated European Platform for Pancreas Cancer Research – from Basic Science to Clinical and Public Health Interventions for a Rare Disease.(2013)
Public Health Genomics 16, 305-312.
- Genome-wide association study identifies two susceptibility loci for osteosarcoma.(2013)
Nat Genet 45, 799-803.
- Do BRCA1 and BRCA2 mutation carriers have earlier natural menopause than their noncarrier relatives? Results from the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer.(2013)
J Clin Oncol 31, 3920-3925.
- Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers(2013)
J Clin Oncol 31, 3091-3099.
- Prognosis Research Strategy (PROGRESS) 2: prognostic factor research.(2013)
PLoS Med 10, e1001380-0.
- Prognosis Research Strategy (PROGRESS) 3: prognostic model research.(2013)
PLoS Med 10, e1001381-.
- Prognosis research strategy (PROGRESS) 1: a framework for researching clinical outcomes(2013)
Brit Med J 346, e5595-.
- Prognosis research strategy (PROGRESS) 4: stratified medicine research(2013)
Brit Med J 346, e5793-.
- Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.(2013)
PLoS Genet 9, e1003284-.
- Biological and statistical approaches for modeling exposure to specific trihalomethanes and bladder cancer risk.(2013)
Am J Epidemiol 178, 652-660.
- Searching for urine biomarkers of bladder cancer recurrence using a liquid chromatography-mass spectrometry and capillary electrophoresis-mass spectrometry metabolomics approach.(2013)
J Chromatogr A 1318, 163-170.
- Diagnostic chest X-rays and breast cancer risk before age 50 years for BRCA1 and BRCA2 mutation carriers.(2013)
Cancer Epidem Biomar 22, 1457-1556.
- Risk of pancreatic cancer in breast cancer families from the breast cancer family registry.(2013)
Cancer Epidem Biomar 22, 803-811.
- An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.(2013)
PLoS ONE 8, e74765-.
- Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants.(2013)
PLoS ONE 8, e75350-.
- Preventing breast and ovarian cancers in high-risk BRCA1 and BRCA2 mutation carriers(2013)
Med J Australia 199, 680-683.
- The Public Health Genomics European Network (PHGEN).(2013)
Public Health Genomics (in press).
- Environmental and Genomic Factors as well as Interventions Influencing Smoking Cessation: A Systematic Review of Reviews and a Proposed Working Model.(2013)
Public Health Genomics 16, 159-173.
- [Basic principles for the development of biomarkers in oncology].(2013)
Arch Esp Urol 66, 423-431.