Mireia Menéndez
A5035614865- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Molecular Biology Techniques and Applications
- Cancer-related Molecular Pathways
- RNA and protein synthesis mechanisms
- Colorectal Cancer Screening and Detection
- RNA Research and Splicing
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Gene expression and cancer classification
- Lung Cancer Treatments and Mutations
- Venous Thromboembolism Diagnosis and Management
- Wnt/β-catenin signaling in development and cancer
- Cancer-related gene regulation
- Lung Cancer Research Studies
- Nutrition, Genetics, and Disease
- Neuroendocrine Tumor Research Advances
- Genomics and Chromatin Dynamics
- Diagnosis and Treatment of Venous Diseases
- Colorectal Cancer Treatments and Studies
Institut Català d'Oncologia
2014-2025
Institut d'Investigació Biomédica de Bellvitge
2010-2025
Centro de Investigación Biomédica en Red de Cáncer
2018-2025
Institut d'Investigació Biomèdica de Girona
2011-2020
Instituto Oncológico Dr. Rosell
2020
Bellvitge University Hospital
2020
Marqués de Valdecilla University Hospital
2020
Duran i Reynals Hospital
2009-2016
Menéndez Pelayo International University
2010
Loss-of-function germline mutations in BRCA1 (MIM #113705) confer markedly increased risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved DNA repair pathways cell-cycle checkpoints. Several splicing isoforms have been described public domain databases, but the physiological role (if any) alternative remains to be established. An accurate description 'naturally occurring' at this locus is prerequisite understand its biological significance. However,...
In silico tools for splicing defect prediction have a key role to assess the impact of variants uncertain significance. Our aim was evaluate performance set commonly used in comparing predictions against RNA vitro results. This done natural splice sites clinically relevant genes hereditary breast/ovarian cancer (HBOC) and Lynch syndrome. A study divided into two stages SSF-like, MaxEntScan, NNSplice, HSF, SPANR dbscSNV tools. discovery dataset 99 with unequivocal results studies, located 10...
PURPOSE Establishing accurate age-related penetrance figures for the broad range of cancer types that occur in individuals harboring a pathogenic germline variant TP53 gene is essential to determine most effective clinical management strategies. These also permit optimal use cosegregation data classification variants unknown significance. Penetrance estimation can easily be affected by bias from ascertainment criteria, an issue not commonly addressed previous studies. MATERIALS AND METHODS...
Abstract BACKGROUND Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis clinical, genetic, pathologic, bioinformatic variables assays transcript length abundance. The integrity assay data turn relies appropriate design, interpretation, reporting. METHODS We conducted multicenter investigation to compare mRNA splicing protocols used by members the ENIGMA (Evidence-Based Network...
Abstract Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious cancer but no mutation (discovery set). TruSight Cancer (94 genes) a custom panel (122 assessed alongside Eighty-three genes targeted by the More than 99% bases had read depth over 30x in...
CHEK2 variants are associated with intermediate breast cancer risk, among other cancers. We aimed to comprehensively describe in a Spanish hereditary (HC) cohort and adjust the American College of Medical Genetics Genomics Association for Molecular Pathology (ACMG-AMP) guidelines their classification. First, three frequent were screened retrospective Hereditary Breast Ovarian Cancer 516 patients. After, whole coding region was analyzed by next-generation sequencing 1848 prospective patients...
Breast cancer (BC) is the most frequent among women in Morocco. However, role of prevalent BC-predisposing genes, BRCA1 and BRCA2, has been largely unexplored. To help define BC Morocco, we characterized first potential founder mutation this population. Genetic testing BRCA2 high-risk families identified c.5309G>T, p.(Gly1770Val) or G1770V five independent from suggesting a effect. confirm hypothesis, haplotype construction was performed using seven intragenic flanking microsatellite...
Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity 85 in/near 3. Bioinformatically predicted spliceogenic underwent mRNA analysis using minigenes and/or patient samples. was measured quantitative analysis. A mouse embryonic stem cell (mESC) based assay determine the impact 18 on and protein function. For each variant, population...
Lynch syndrome is caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. The novel MSH2 c.[2635-3T>C; 2635-5C>T] mutation was identified 4 families, cosegregating with disease. This mutation, located intron 15, predicted to alter correct mRNA processing silico analysis. Our aim perform screening high risk CRC cases and control populations, evaluate founder effect our population haplotype analysis confirm pathogenic of expression studies. Mutation performed SSCP...
Next-generation sequencing (NGS) has revolutionized genomic research and is set to have a major impact on genetic diagnostics thanks the advent of benchtop sequencers flexible kits for targeted libraries. Among main hurdles in NGS are difficulty performing bioinformatic analysis huge volume data generated high number false positive calls that could be obtained, depending technology pipeline. Here, we present development free user-friendly Web tool detects filters sequence variants, provides...
Classification of intronic and predicted missense changes in the breast cancer susceptibility genes BRCA1 BRCA2 remains a significant challenge for management patients carrying these variants. Defective mRNA splicing is established as pathway to disease, analysis unclassified variants has been shown assist classification genetic counselling. However interpretation assay results can be difficult, particularly those that give rise aberrations background naturally occurring isoforms. The...