Cargando…

Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy

Breast cancer is the most common neoplasia in females worldwide, about 10% being hereditary/familial and due to DNA variants in cancer-predisposing genes, such as the highly penetrant BRCA1/BRCA2 genes. However, their variants explain up to 25% of the suspected hereditary/familial cases. The availab...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nunziato, Marcella, Di Maggio, Federica, Pensabene, Matilde, Esposito, Maria Valeria, Starnone, Flavio, De Angelis, Carmine, Calabrese, Alessandra, D’Aiuto, Massimiliano, Botti, Gerardo, De Placido, Sabino, D’Argenio, Valeria, Salvatore, Francesco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403188/ https://www.ncbi.nlm.nih.gov/pubmed/36035419 http://dx.doi.org/10.3389/fmed.2022.894358

Ejemplares similares

A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA
por: Esposito, Maria Valeria, et al.
Publicado: (2016)

Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
por: Nunziato, Marcella, et al.
Publicado: (2017)

Microbiome composition indicate dysbiosis and lower richness in tumor breast tissues compared to healthy adjacent paired tissue, within the same women
por: Esposito, Maria Valeria, et al.
Publicado: (2022)

Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment
por: Secondino, Angela, et al.
Publicado: (2022)

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair
por: Esposito, Maria Valeria, et al.
Publicado: (2019)

Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients
por: De Palma, Fatima Domenica Elisa, et al.
Publicado: (2021)

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk
por: Limongelli, Giuseppe, et al.
Publicado: (2020)

Dissecting Intra-Tumor Heterogeneity by the Analysis of Copy Number Variations in Single Cells: The Neuroblastoma Case Study
por: Cariati, Federica, et al.
Publicado: (2019)

A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis
por: Nunziato, Marcella, et al.
Publicado: (2023)

Combined effect of obesity and diabetes on early breast cancer outcome: a prospective observational study
por: Buono, Giuseppe, et al.
Publicado: (2017)

The High-Throughput Analyses Era: Are We Ready for the Data Struggle?
por: D’Argenio, Valeria
Publicado: (2018)

Human Microbiome Acquisition and Bioinformatic Challenges in Metagenomic Studies
por: D’Argenio, Valeria
Publicado: (2018)

The Prenatal Microbiome: A New Player for Human Health
por: D’Argenio, Valeria
Publicado: (2018)

New Insights into the Molecular Bases of Familial Alzheimer’s Disease
por: D’Argenio, Valeria, et al.
Publicado: (2020)

Microbiome Influence in the Pathogenesis of Prion and Alzheimer’s Diseases
por: D’Argenio, Valeria, et al.
Publicado: (2019)

Probiotics, prebiotics and their role in Alzheimer’s disease
por: D'Argenio, Valeria, et al.
Publicado: (2021)

Celiac disease‐associated Neisseria flavescens decreases mitochondrial respiration in CaCo‐2 epithelial cells: Impact of Lactobacillus paracasei CBA L74 on bacterial‐induced cellular imbalance
por: Labruna, Giuseppe, et al.
Publicado: (2019)

Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie
por: De Angelis, Carmine, et al.
Publicado: (2021)

Long-term survival and BRCA status in male breast cancer: a retrospective single-center analysis
por: Gargiulo, Piera, et al.
Publicado: (2016)

Editorial: Whole Genome Sequencing for rare diseases
por: Di Resta, Chiara, et al.
Publicado: (2023)

The evolving role of genetic tests in reproductive medicine
por: Cariati, Federica, et al.
Publicado: (2019)

One4Two(®): An Integrated Molecular Approach to Optimize Infertile Couples’ Journey
por: D’Argenio, Valeria, et al.
Publicado: (2021)

Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer
por: Pensabene, Matilde, et al.
Publicado: (2016)

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives
por: Precone, Vincenza, et al.
Publicado: (2015)

Ancestry-specific predisposing germline variants in cancer
por: Oak, Ninad, et al.
Publicado: (2020)

Combination of inositol and alpha lipoic acid in metabolic syndrome-affected women: a randomized placebo-controlled trial
por: Capasso, Immacolata, et al.
Publicado: (2013)

Germline mutations predisposing to diffuse large B-cell lymphoma
por: Leeksma, O C, et al.
Publicado: (2017)

Germline mutations predisposing to diffuse large B-cell lymphoma
por: Leeksma, O C, et al.
Publicado: (2017)

Molecular profiles of screen detected vs. symptomatic breast cancer and their impact on survival: results from a clinical series
por: Crispo, Anna, et al.
Publicado: (2013)

Nab-paclitaxel for the management of triple-negative metastatic breast cancer: a case study
por: Arpino, Grazia, et al.
Publicado: (2015)

Comparative Metagenomic Analysis of Human Gut Microbiome Composition Using Two Different Bioinformatic Pipelines
por: D'Argenio, Valeria, et al.
Publicado: (2014)

Microbiota and Human Reproduction: The Case of Male Infertility
por: Tomaiuolo, Rossella, et al.
Publicado: (2020)

Microbiota and Human Reproduction: The Case of Female Infertility
por: Tomaiuolo, Rossella, et al.
Publicado: (2020)

From laboratory bench to benchmark: technology transfer in laboratory medicine
por: Cariati, Federica, et al.
Publicado: (2020)

Endosomal trafficking and related genetic underpinnings as a hub in Alzheimer's disease
por: Limone, Adriana, et al.
Publicado: (2022)

Metabolic syndrome, hyperinsulinaemia and body mass index as risk factors in breast cancer: National Cancer Institute of Naples experience
por: Capasso, I, et al.
Publicado: (2009)

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes
por: Mazzaccara, Cristina, et al.
Publicado: (2022)

Gail's model as first step for early diagnosis: National Cancer Institute of Naples experience
por: Capasso, I, et al.
Publicado: (2009)

Current Updates on Expanded Carrier Screening: New Insights in the Omics Era
por: Veneruso, Iolanda, et al.
Publicado: (2022)

Germline BAP1 mutations predispose to malignant mesothelioma
por: Testa, Joseph R., et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_l0pqr5n67b53ichh7rbec8gnn7