SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Accurate classification of genetic variants is crucial for clinical decision-making in hereditary cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task independently due to the lack of a dedicated resource. Here we present SpadaHC, a web-based database for sharing variants in hereditary cancer genes in the Spanish population.

Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.

Background: Multigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a certain cancer phenotype. Opportunistic genetic screening based on MGP-NGS in patients with suspicion of hereditary cancer reveals these incidental findings (IFs).

Methods: MGP-NGS was performed in patients who fulfilled the clinical criteria to undergo genetic testing according to the Catalan Health Service guidelines.

Utility of ctDNA Liquid Biopsies from Cancer Patients: An Institutional Study of 285 ctDNA Samples.

Liquid biopsy has improved significantly over the last decade and is attracting attention as a tool that can complement tissue biopsy to evaluate the genetic landscape of solid tumors. In the present study, we evaluated the usefulness of liquid biopsy in daily oncology practice in different clinical contexts. We studied ctDNA and tissue biopsy to investigate , , , and mutations from 199 cancer patients between January 2016 and March 2021.

Evaluation of Coriolis Micro Air Sampling to Detect Volatile and Semi-Volatile Organic Compounds.

There are several analytical procedures available for the monitoring of volatile organic compounds (VOCs) in the air, which differ mainly on sampling procedures. The Coriolis micro air sampler is a tool normally designed for biological air sampling. In this paper, the Coriolis micro bio collector is used to evaluate its ability to sample organic contaminants sampling and detecting them when combined GC-MS.

Untargeted metabolomic approaches in food authenticity: A review that showcases biomarkers.

The assessment of food authenticity is a topic that gained a lot of interest at the international level. This term includes misidentification of variety, origin, production system, processing but also adulteration. These frauds all have an analytical component, and research tends to offer new analytical solutions to manage them.

Assessment of micropollutants toxicity by using a modified Saccharomyces cerevisiae model.

Environment can be affected by a variety of micropollutants. In this paper, we develop a system to assess the toxicity on an environmental sample, based on the expression of a nanoluciferase under the control of the STB5 promotor in a yeast. The STB5 gene encodes for a transcription factor involved in a pleiotropic drug resistance and in the oxidative stress response.

The Utilization of Linear Polylysine Coupled with Mechanic Forces to Extract Microbial DNA from Different Matrices.

Molecular approaches are powerful tools that are used for medical or environmental diagnoses. However, the main limitations of such a tools are that they extract low levels of DNA and they do not remove the inhibitors of polymerase chain reaction (PCR). Although the use of polycation to complex and purify DNA has been described in the literature, elution often requires a high ionic strength or pH levels not compatible with molecular analyses.

Lay people and experts' risk perception of pharmaceuticals in the environment in Southwestern Europe.

This study aims to contribute to the risk management of pharmaceuticals in the environment, illustrating risk perceptions of lay people and experts from Southwestern Europe (Portugal, Spain, and France). The psychometric paradigm was applied to assess risk regarding four hazards: pharmaceuticals in the environment (i.e.

Critical parameters in surface plasmon resonance biosensor development: The interaction between estrogen receptor and estrogen response element as model.

Estrogenic compounds are contaminants that may be active at low concentrations and are a major concern for environmental quality. They interact with organisms via Estrogen Receptors (ER). Some detection methods which have been developed use the ability of ER to interact with short consensus DNA sequences known as Estrogen Response Elements (ERE).

The importance of household pharmaceutical products disposal and its risk management: Example from Southwestern Europe.

The presence of pharmaceuticals in the environment is an emergent unknown environmental problem, linked to increased production and consumption of pharmaceuticals and, as such, understanding risk perception is fundamental. This study focuses on exploring causes (trust and knowledge) and effects (intention and proper individual disposal of pharmaceutical leftovers) of environmental and health risk perception. Survey data was collected in Portugal, Spain, and France (sample of 509 individuals).

Development of a DGGE method to explore communities.

risk assessment is nowadays based on the presence and concentration of either . Many species of can cause Legionnaires' disease, indeed about half of the known species have been associated with infection. The aim of this work was to develop a method to assess the composition of the species community in an environmental sample in order to have a better understanding of the contamination of the ecosystem by pathogenic strains.

Comparison of Stir Bar Sorptive Extraction and Solid Phase Microextraction of Volatile and Semi-Volatile Metabolite Profile of .

For the analysis of volatile bacterial compounds, solid phase microextraction (SPME) is currently the most widely used metabolite concentration technique. Recently, the potential of stir bar sorptive extraction (SBSE) for this use has been demonstrated. These two approaches were therefore used in combination with gas-chromatography coupled with mass-spectrometry (GC-MS) for the analysis of volatile and semi-volatile bacterial compounds produced by .

Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.

Background: Approximately 5-10% of breast carcinomas have been related to hereditary conditions and are attributable to pathogenic variants in the BRCA1 and BRCA2 genes, which is referred to as hereditary breast and ovarian cancer (HBOC) syndrome. The inclusion of additional genes that can be related to HBOC syndrome is under intense evaluation due to the high proportion of patients with HBOC criteria who do not present pathogenic mutations in BRCA genes, named BRCAX, despite having high clinical suspicion of hereditary cancer. The main aim is to identify new potentially pathogenic gene variants that may contribute to HBOC to improve the efficiency of routine diagnostic tests in this hereditary condition.

Multiple stir bar sorptive extraction combined with gas chromatography-mass spectrometry analysis for a tentative identification of bacterial volatile and/or semi-volatile metabolites.

We propose a new approach combining the principles and advantages of stir bar sorptive extraction (SBSE) and headspace sorptive extraction (HSSE). Stir bars have so far never been used for the extraction of volatile/semi-volatile bacterial compounds. The effectiveness of two stir bars with polydimethylsiloxane (PDMS) or ethylene glycol/silicone (EGS) as sorbent was tested by performing sample extraction directly in gas chromatography (GC) vials containing bacterial cultures.

Innovative isotopic method to evaluate bioaccumulation of As and MTEs in Vitis vinifera.

The transfer of metal and metalloid trace elements (MTEs) from contaminated soil to grapevines is a major issue for grape consumption and for the associated health risks. Based on an isotopic approach, we shed light on the concept of MTE bioavailability. The bioavailable fractions are identified by using the Sr-isotope ratio as a proxy for MTEs.

Germline promoter hypermethylation in BRCA1 and BRCA2 genes is not present in hereditary breast cancer patients.

Purpose: Germline promoter hypermethylation of BRCA1 and BRCA2 genes is an alternative event of gene silencing that has not been widely investigated in hereditary breast and ovarian cancer (HBOC) syndrome.

Methods: We analyzed germline BRCA promoter hypermethylation in HBOC patients with and without BRCA mutations and control subjects, using a recently developed BRCA methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay.

Results: Neither the patients tested nor the control subjects showed germline hypermethylation of the BRCA1 and BRCA2 promoter regions analyzed.

Dynamics and sources of pharmaceutically active compounds in a coastal Mediterranean river during heavy rains.

Concentrations of pharmaceutically active compounds (PACs) in freshwater systems depend on numerous factors such as land use and hydrometeorological conditions. In the Mediterranean, heavy rain events are of particular importance as they highly influence the concentration of micropollutants found in freshwater and are a source of recurrent first foul flushes due to combined sewer overflows (CSOs). In this study, we seek to assess the dynamics of pharmaceuticals during storm events in coastal Mediterranean rivers at a fine scale and to determine their contribution to multicontamination phenomena owing to CSOs.

Metabolomics reveals novel blood plasma biomarkers associated to the BRCA1-mutated phenotype of human breast cancer.

Hereditary breast and ovarian cancer syndrome (HBOC) is partly due to the presence of mutations in the BRCA genes. Triple-negative (TN) breast cancer (BC) shares histological characteristics with germline BRCA1 mutation-associated tumours. We have investigated the metabolic profiles of human breast cancer (BC) cell lines carrying BRCA1 pathogenic mutations by non-targeted liquid chromatography coupled to mass spectrometry technology.

Pharmaceuticals released from senior residences: occurrence and risk evaluation.

One of the main pursuits, yet most difficult, in monitoring studies is to identify the sources of environmental pollution. In this study, we have identified health-care facilities from south European countries as an important source of pharmaceuticals in the environment. We have estimated that compounds consumed in by the elderly and released from effluents of senior residences can reach river waters at a concentration higher than 0.

In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.

Ascertaining the clinical consequences of BRCA1 and BRCA2 variants of uncertain significance (VUS) is currently indispensable for providing effective genetic counseling and preventive actions for families with hereditary breast and ovarian cancer (HBOC). To this end, we conducted a combination of in silico prediction and cDNA splicing analyses of 13 BRCA1 and 10 BRCA2 VUS identified in our cohort as well as a case-control analysis in a population-based sample of 10 recurrent VUS. We observed consistent results between the in silico predictions and sequencing analyses for all analyzed VUS.

Estrogen receptor preparation effects on the receptor-DNA interaction by surface plasmon resonance.

Up to now, several studies have investigated estrogen receptor (ER)-estrogen response element (ERE) interaction using biosensors such as surface plasmon resonance. These strategies have aimed to understand the molecular mechanism of such interaction as well as the effect of the ligand on this interaction. These approaches start to be used to determine the mechanisms of protein/DNA interaction, in particular in the context of drug discovery or environmental applications.

Spatial distribution of triazine residues in a shallow alluvial aquifer linked to groundwater residence time.

At present, some triazine herbicides occurrence in European groundwater, 13 years after their use ban in the European Union, remains of great concern and raises the question of their persistence in groundwater systems due to several factors such as storage and remobilization from soil and unsaturated zone, limited or absence of degradation, sorption in saturated zones, or to continuing illegal applications. In order to address this problem and to determine triazine distribution in the saturated zone, their occurrence is investigated in the light of the aquifer hydrodynamic on the basis of a geochemical approach using groundwater dating tracers (H/He). In this study, atrazine, simazine, terbuthylazine, deethylatrazine, deisopropylatrazine, and deethylterbuthylazine are measured in 66 samples collected between 2011 and 2013 from 21 sampling points, on the Vistrenque shallow alluvial aquifer (southern France), covered by a major agricultural land use.

Highlighting the impact of aging on type I collagen: label-free investigation using confocal reflectance microscopy and diffuse reflectance spectroscopy in 3D matrix model.

During aging, alterations of extracellular matrix proteins contribute to various pathological phenotypes. Among these alterations, type I collagen cross-linking and associated glycation products accumulation over time detrimentally affects its physico-chemical properties, leading to alterations of tissue biomechanical stability. Here, different-age collagen 3D matrices using non-destructive and label-free biophotonic techniques were analysed to highlight the impact of collagen I aging on 3D constructs, at macroscopic and microscopic levels.