A5011865546- Genetic factors in colorectal cancer
- Digestive system and related health
- BRCA gene mutations in cancer
- Colorectal Cancer Treatments and Studies
- Colorectal Cancer Screening and Detection
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Systemic Lupus Erythematosus Research
- Helicobacter pylori-related gastroenterology studies
- Immunodeficiency and Autoimmune Disorders
- RNA and protein synthesis mechanisms
- Ethics and bioethics in healthcare
- DNA Repair Mechanisms
- Lung Cancer Treatments and Mutations
- Ubiquitin and proteasome pathways
- Glycosylation and Glycoproteins Research
- Protein Tyrosine Phosphatases
- Cancer-related Molecular Pathways
- Microtubule and mitosis dynamics
- Renal Diseases and Glomerulopathies
- Peptidase Inhibition and Analysis
- Cell Adhesion Molecules Research
- Cancer Immunotherapy and Biomarkers
University of Liège
2022-2024
Instituto de Investigación Sanitaria del Hospital Clínico San Carlos
2013-2022
Hospital Clínico San Carlos
2014-2020
Centro de Investigación Biomédica en Red de Cáncer
2017-2020
Pontificia Universidad Javeriana
2019
Instituto de Salud Carlos III
2018
University of California, San Diego
2014
Transfer RNA dynamics contribute to cancer development through regulation of codon-specific messenger translation. Specific aminoacyl-tRNA synthetases can either promote or suppress tumourigenesis. Here we show that valine synthetase (VARS) is a key player in the codon-biased translation reprogramming induced by resistance targeted (MAPK) therapy melanoma. The proteome rewiring patient-derived MAPK therapy-resistant melanoma biased towards usage and coincides with upregulation cognate tRNAs...
Familial colorectal cancer type X (FCCX) encompasses a group of families with dominant inheritance pattern (CRC) but no alteration in any known CRC susceptibility gene. Therefore, the explanation their is priority to offer an accurate genetic counseling. We screened 27 coding exons and exon-intron boundaries BRCA2 48 FCCX probands. identified 29 variants including frameshift mutation. Deleterious variant c.3847_3848delGT p.(Val1283Lysfs*2) showed cosegregation disease as well loss...
Familiar colorectal cancer type X (FCCTX) comprises families that fulfill the Amsterdam criteria for hereditary non-polyposis cancer, but lack mismatch repair deficiency defines Lynch syndrome. Thus, genetic cause increases predisposition to and other related cancers in with FCCTX remains be elucidated. Using whole-exome sequencing, we have identified a truncating mutation SETD6 gene (c.791_792insA, p.Met264IlefsTer3) all affected members of family. is mono-methyltransferase previously shown...
Half of the high-risk colorectal cancer families that fulfill clinical criteria for Lynch syndrome lack germline mutations in mismatch repair (MMR) genes and remain unexplained. Genetic testing hereditary cancers is rapidly evolving due to introduction multigene panels, which may identify more than old screening methods. The aim this study use a Next Generation Sequencing panel order find involved predisposition these families. For study, 98 patients from unexplained were tested with...
Abstract Attenuated adenomatous polyposis (AAP) is a heterogeneous syndrome in terms of clinical manifestations, heritability and etiology the disease. Genetic heterogeneity low penetrance alleles are probably best explanation for this variability. Certainly, it known that APC MUTYH high predisposition genes polyposis, but they only account 5–10% AAP. Other new genes, such as POLE , POLD1 NTHL1 AXIN2 or MSH 3, have been recently described associated with AAP, their relative contribution...
Familial colorectal cancer Type X (FCCTX) comprises a heterogeneous group of families with an increased risk developing and other related tumors, but mismatch repair-proficient, microsatellite-stable (MSS) tumors. Unfortunately, the genetic basis underlying their predisposition remains unknown. Although pathogenic germline variants in BRIP1 increase hereditary ovarian cancer, involvement is still not well known. In order to identify new associated inherited affected nonaffected individuals...
Abstract Matrix metalloproteinase‐11 (MMP11) is an enzyme with proteolytic activity against matrix and nonmatrix proteins. Although most MMPs are secreted as inactive proenzymes later activated extracellularly, MMP11 intracellularly by furin within the constitutive secretory pathway. It a key factor in physiological tissue remodeling its alteration may play important role progression of epithelial malignancies other diseases. TCGA colon colorectal adenocarcinoma data showed that upregulation...
The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent implicated familial CRC susceptibility. Partially inactivating variant, NM_024642.4:c.907G>A, p.(D303N), previously detected and proposed as the causative risk allele. Since phenotypes described carrier families showed only also a polyp history, we hypothesized that could be involved adenoma predisposition consequently, hereditary polyposis syndromes. For purpose, have screened...
41 Background: A family history of breast cancer in a first-degree relative is associated with 2-fold increase risk; however, heterogeneous disease and there may be differences risk profiles driven by tumor subtype or racial/ethnic group. Methods: We assessed prevalence familial its association among 914 women Mexican descent enrolled the Ella Study, case-only, binational (U.S.-Mexico) study. Logistic regression was conducted to compare odds triple negative cancers non triple-negative...
<p>Supplementary data include a table with the primer sequences and three figures showing validation segregation study of families carrying BRIP1 variants.</p>
<p>Supplementary data include a table with the primer sequences and three figures showing validation segregation study of families carrying BRIP1 variants.</p>
<div>Abstract<p>Familial colorectal cancer Type X (FCCTX) comprises a heterogeneous group of families with an increased risk developing and other related tumors, but mismatch repair–proficient, microsatellite-stable (MSS) tumors. Unfortunately, the genetic basis underlying their predisposition remains unknown. Although pathogenic germline variants in <i>BRIP1</i> increase hereditary ovarian cancer, involvement is still not well known. In order to identify new...
<div>Abstract<p>Familial colorectal cancer Type X (FCCTX) comprises a heterogeneous group of families with an increased risk developing and other related tumors, but mismatch repair–proficient, microsatellite-stable (MSS) tumors. Unfortunately, the genetic basis underlying their predisposition remains unknown. Although pathogenic germline variants in <i>BRIP1</i> increase hereditary ovarian cancer, involvement is still not well known. In order to identify new...
Familial Colorectal Cancer Type X (FCCTX) is a term used to describe group of families with an increased predisposition colorectal and other related cancers, but unknown genetic basis. Whole-exome sequencing in two cancer-affected one healthy members FCCTX family revealed truncating germline mutation PTPRT [c.4090dup, p.(Asp1364GlyfsTer24)]. encodes receptor phosphatase tumor suppressor gene found be frequently mutated at somatic level many having been proven that these mutations act as...