Glòria Ribas
A5034653708- melanin and skin pigmentation
- Skin Protection and Aging
- Epigenetics and DNA Methylation
- Cutaneous Melanoma Detection and Management
- BRCA gene mutations in cancer
- Carcinogens and Genotoxicity Assessment
- Cancer Genomics and Diagnostics
- Cancer-related molecular mechanisms research
- Genetic Associations and Epidemiology
- MicroRNA in disease regulation
- Biochemical Analysis and Sensing Techniques
- Lung Cancer Treatments and Mutations
- Genetic factors in colorectal cancer
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Immunotherapy and Immune Responses
- Mast cells and histamine
- DNA Repair Mechanisms
- Breast Cancer Treatment Studies
- Immune Cell Function and Interaction
- Suicide and Self-Harm Studies
- Circular RNAs in diseases
- Genomics and Chromatin Dynamics
- Cancer-related gene regulation
- Vitamin D Research Studies
INCLIVA Health Research Institute
2013-2022
Universitat de València
2015-2022
Centro de Investigación Biomédica en Red de Cáncer
2017-2022
Centre for Biomedical Network Research on Rare Diseases
2008-2022
Hospital Universitari i Politècnic La Fe
2021
Sistemas Genómicos
2020
Universidade do Sul de Santa Catarina
2020
Hospital Clínico Universitario de Valencia
2010-2019
Vall d'Hebron Hospital Universitari
2019
Institut Català d'Oncologia
2019
A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific 1 (LSP1)) associated with breast cancer risk. We investigated whether the associations between these SNPs risk varied by clinically important tumor characteristics up to 23,039 invasive cases 26,273 controls from 20...
The MC1R gene is a key regulator of skin pigmentation. We aimed to evaluate the association between variants and risk sporadic cutaneous melanoma (CM) within M‐SKIP project, an international pooled‐analysis on , cancer phenotypic characteristics. Data included 5,160 cases 12,119 controls from 17 studies. calculated summary odds ratio (SOR) for each nine most studied combined with CM by using random‐effects models. Stratified analysis characteristics were also performed. Melanoma increased...
Human pigmentation appears to be one of the strongest risk factors for malignant melanoma (MM). In humans, there is a long list genes known involved in rare pigmentary disorders such as albinism. These explain most variation phenotypes seen human populations, and they do this by regulating level synthesis, chemical composition, packaging, distribution melanin. This Spanish case-control study included 131 consecutive patients 245 control subjects frequency-matched sex age. A total 23 SNPs six...
Human pigmentation appears to be one of the main modulators individual risk developing malignant melanoma (MM). A large number genes are known involved in rare pigmentary disorders and explain most variation phenotypes seen human populations. This Spanish case-control study included 205 patients with 245 control subjects. Thirty-one single nucleotide polymorphisms (SNPs) that had been mainly associated congenital syndromes (ADTB3A, ATRN, CHS1, EDNRB, HPS, KIT, MGRN1, MITF, MLANA, MYO5A,...
Breast cancer is rarely diagnosed in very young women (35 years old or younger), and it often presents with distinct clinical-pathological features related to a more aggressive phenotype worse prognosis when at this early age. A pending question whether breast arises from the deregulation of different underlying mechanisms, something that will make disease an entity differentiated older patients.We performed comprehensive study miRNA expression using Affymetrix2.0 array on paraffin-embedded...
BackgroundThe molecular classification of gastric cancer recognises two subtypes prone to immune checkpoint blockade: the microsatellite unstable and Epstein-Barr virus (EBV)-related tumours. We aim assess concordance between immunohistochemistry PCR for status evaluation, explore value instability (MSI) EBV as predictive survival factors.Material methodsWe collected 246 consecutively diagnosed cases in all stages evaluated using mismatched repair (MMR) proteins PCR. expression was studied...
Abstract Background Vitamin D serum levels have been found to be related sun exposure and diet, together with cell differentiation, growth control consequently, cancer risk. receptor ( VDR ) genotypes may influence risk; however, no epidemiological studies in sporadic breast (BC) or malignant melanoma (MM) performed a southern European population. In this study, the gene has evaluated two epithelial cancers BC MM. Methods We conducted an analysis 549 consecutive non-related cases 556...
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...
The human melanocortin-1 receptor (MC1R) gene, which plays a crucial role in pigmentation, also appears to be important malignant melanoma (MM). This case–control study the Spanish population included 116 consecutive MM patients and 188 controls frequency matched for sex age. Sequence analysis of entire coding region MC1R was performed, identifying 21 variants, all them previously reported except three novel non-synonymous changes: Ser41Phe, Met128Thr Asn281Ser. Simulated structural analyses...
The melanocortin 1 receptor, a Gs protein-coupled receptor expressed in epidermal melanocytes, is major determinant of skin pigmentation and phototype an important contributor to melanoma risk. MC1R activation stimulates synthesis black, strongly photoprotective eumelanin pigments. Several alleles are associated with red hair, fair skin, increased sensitivity ultraviolet radiation, cancer gene highly polymorphic, but only few naturally occurring have been functionally characterized, which...
Abstract Background Few high penetrance genes are known in Malignant Melanoma (MM), however, the involvement of low-penetrance such as MC1R , OCA2, ASIP SLC45A2 and TYR has been observed. Lately, genome-wide association studies (GWAS) have ideal strategy to identify new common, susceptibility loci. In this case–control study, we try validate our population nine melanoma associated markers selected from published GWAS predisposition. Methods We genotyped 9 corresponding 8 ( PARP1, MX2, ATM,...
// Maider Ibarrola-Villava 1 , Marta J. Llorca-Cardeñosa Noelia Tarazona Cristina Mongort 2 Tania Fleitas José Alejandro Perez-Fidalgo Susana Roselló Samuel Navarro Gloria Ribas Andrés Cervantes Hematology and Medical Oncology Unit, Biomedical Research Institute INCLIVA, University of Valencia, 46010, Spain Department Pathology, Correspondence to: Ribas, e-mail: gribas@incliva.es Andres Cervantes, andres.cervantes@uv.es Keywords: gastric cancer, gene expression,...
Introdução: A síndrome de Down é uma condição genética causada pela trissomia do cromossomo 21, resultando em três cópias desse vez duas. Pode ocorrer espontaneamente na formação dos gametas ou, raramente, ser herdada. Objetivos: O objetivo presente trabalho foi realizar o levantamento epidemiológico acerca óbito infantil, crianças com Síndrome e outras anomalias genéticas, no Brasil, um período 21 anos. Métodos: estudo ecológico, descritivo, transversal retrospectivo. Os dados foram...