A5007513198- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- Digestive system and related health
- BRCA gene mutations in cancer
- Genetics and Neurodevelopmental Disorders
- Colorectal Cancer Screening and Detection
- Gastric Cancer Management and Outcomes
- Pancreatic and Hepatic Oncology Research
- Cancer Cells and Metastasis
- RNA Research and Splicing
- Lipid metabolism and disorders
- Cancer-related Molecular Pathways
- Lung Cancer Treatments and Mutations
- Ubiquitin and proteasome pathways
- Genomics and Chromatin Dynamics
- Helicobacter pylori-related gastroenterology studies
- Cancer Treatment and Pharmacology
- Cancer, Lipids, and Metabolism
- PARP inhibition in cancer therapy
- MicroRNA in disease regulation
- Circular RNAs in diseases
- Colorectal and Anal Carcinomas
- Glycosylation and Glycoproteins Research
Instituto de Investigación Sanitaria del Hospital Clínico San Carlos
2013-2021
Hospital Clínico San Carlos
2010-2020
Centro de Investigación Biomédica en Red de Cáncer
2017-2020
Instituto de Salud Carlos III
2018
Planta
2012
University of Illinois Chicago
2011
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...
Abstract Purpose: Several studies have described molecular differences between microsatellite stable hereditary nonpolyposis colorectal cancer (MSS-HNPCC) and unstable Lynch syndrome tumors (MSI-HNPCC). These highlight the possibility that other instability forms could explain susceptibility in this group of families. The base excision repair (BER) pathway is major DNA for oxidative damage. A defect can result transversion mutations a subsequent increased risk. Mutations MUTYH been...
Background PALB2 monoallelic loss-of-function germ-line variants confer a breast cancer risk comparable to the average BRCA2 pathogenic variant. Recommendations for reduction strategies in carriers are similar. Elaborating robust criteria identify PALB2— without incurring overprediction—is thus of paramount clinical relevance. Towards this aim, we have performed comprehensive characterisation alternative splicing , analysing its relevance classification truncating and splice site according...
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...
Hereditary breast and/or ovarian cancer is a highly heterogeneous disease with more than 10 known disease-associated genes. In the framework of BRIDGES project (Breast Cancer Risk after Diagnostic Gene Sequencing), RAD51C gene has been sequenced in 60,466 patients and 53,461 controls. We aimed at functionally characterizing all identified genetic variants that are predicted to disrupt splicing process. Forty intron-exon boundaries were bioinformatically analyzed, 20 which selected for...
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...
Large genomic rearrangements (LGRs) in DNA-mismatch-repair (MMR) genes, particularly among MSH2 gene, are frequently involved the etiology of Lynch syndrome (LS). The Multiplex Ligation and Probe Amplification assay (MLPA) is commonly used to identify such alterations. However, most cases, MLPA-identified alteration not characterized at molecular level, which might be important recurrent alterations analyze mechanisms underlying these mutational events. Probands from a cohort Syndrome...
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...
MicroRNAs (miRs) are frequently altered in colorectal cancer (CRC) and can be used as prognostic factors.To confirm stage III CRC patients a reported miR signature that was associated to the presence of metastatic disease. To correlate expression with microsatellite instability (MSI) mutations RAS BRAF.miR-21, miR-135a, miR-206, miR-335 miR-Let-7a analyzed by RT-qPCR 150 out 329 analyze MSI BRAF mutations. Association disease free survival (DFS) overall (OS) analyzed. Data confirmed...
<div>Abstract<p><b>Purpose:</b> Several studies have described molecular differences between microsatellite stable hereditary nonpolyposis colorectal cancer (MSS-HNPCC) and unstable Lynch syndrome tumors (MSI-HNPCC). These highlight the possibility that other instability forms could explain susceptibility in this group of families.</p><p>The base excision repair (BER) pathway is major DNA for oxidative damage. A defect can result transversion mutations a...
<p>Supplementary Figures S1-S3; Supplementary Tables S1-S2.</p>
<div>Abstract<p><b>Purpose:</b> Several studies have described molecular differences between microsatellite stable hereditary nonpolyposis colorectal cancer (MSS-HNPCC) and unstable Lynch syndrome tumors (MSI-HNPCC). These highlight the possibility that other instability forms could explain susceptibility in this group of families.</p><p>The base excision repair (BER) pathway is major DNA for oxidative damage. A defect can result transversion mutations a...
<p>Supplementary Figures S1-S3; Supplementary Tables S1-S2.</p>
<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>
We here report on a case of 46-year-old male under evaluation for persistent long-term (for more than 20 years) Hypertriglyceridemia (HTG) submitted to us genomic study based in an exome analysis mixed dyslipidemia, with Hypercholesterolemia (HC) and HTG (in multiple serum determinations, recent years Abbott Alinity Chemistry Analyzers), unequal response treatment (with statins HC, fibrates HTG), progressive decrease cholesterol values (now at almost optimal LDL cholesterol, around 125...