Cargando…

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

IMPORTANCE: Genetic testing of hereditary cancer using comprehensive gene panels can identify patients with more than one pathogenic mutation in high and/or moderate-risk-associated cancer genes. This phenomenon is known as multilocus inherited neoplasia alleles syndrome (MINAS), which has been pote...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stradella, Agostina, del Valle, Jesús, Rofes, Paula, Feliubadaló, Lídia, Grau Garces, Èlia, Velasco, Àngela, González, Sara, Vargas, Gardenia, Izquierdo, Ángel, Campos, Olga, Tornero, Eva, Navarro, Matilde, Balmaña-Gelpi, Judith, Capellá, Gabriel, Pineda, Marta, Brunet, Joan, Lázaro, Conxi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2019
Materias:	Cancer Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678040/ https://www.ncbi.nlm.nih.gov/pubmed/30580288 http://dx.doi.org/10.1136/jmedgenet-2018-105700

Ejemplares similares

BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort
por: Rofes, Paula, et al.
Publicado: (2021)

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant
por: Rofes, Paula, et al.
Publicado: (2021)

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
por: McGuigan, Anthony, et al.
Publicado: (2022)

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients
por: del Valle, Jesús, et al.
Publicado: (2020)

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
por: Castellanos, Elisabeth, et al.
Publicado: (2017)

Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants
por: Quiles, Francisco, et al.
Publicado: (2013)

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
por: Moreno-Cabrera, José Marcos, et al.
Publicado: (2020)

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines
por: Munté, Elisabet, et al.
Publicado: (2023)

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools
por: Moreno-Cabrera, José Marcos, et al.
Publicado: (2021)

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer
por: Feliubadaló, Lídia, et al.
Publicado: (2017)

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families
por: Fernández-Rodríguez, Juana, et al.
Publicado: (2012)

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals
por: Dámaso, Estela, et al.
Publicado: (2020)

Role of POLE and POLD1 in familial cancer
por: Mur, Pilar, et al.
Publicado: (2020)

Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation
por: Dámaso, Estela, et al.
Publicado: (2019)

Longer Telomeres Are Associated with Cancer Risk in MMR-Proficient Hereditary Non-Polyposis Colorectal Cancer
por: Seguí, Nuria, et al.
Publicado: (2014)

Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance
por: Ruiz de Garibay, Gorka, et al.
Publicado: (2018)

Unraveling the Hexaploid Sweetpotato Inheritance Using Ultra-Dense Multilocus Mapping
por: Mollinari, Marcelo, et al.
Publicado: (2019)

Telomere Length and Genetic Anticipation in Lynch Syndrome
por: Seguí, Nuria, et al.
Publicado: (2013)

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
por: Mur, Pilar, et al.
Publicado: (2016)

Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
por: Mur, Pilar, et al.
Publicado: (2016)

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas
por: Belhadj, Sami, et al.
Publicado: (2019)

Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals
por: Dueñas, Nuria, et al.
Publicado: (2020)

Correction: Dueñas et al. Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals. Cancers 2020, 12, 3419
por: Dueñas, Nuria, et al.
Publicado: (2021)

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
por: González-Acosta, Maribel, et al.
Publicado: (2020)

Multilocus DNA barcoding – Species Identification with Multilocus Data
por: Liu, Junning, et al.
Publicado: (2017)

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
por: Bellido, Fernando, et al.
Publicado: (2016)

Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes
por: Terradas, Mariona, et al.
Publicado: (2020)

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
por: Moles-Fernández, Alejandro, et al.
Publicado: (2018)

La integración escolar del niño con neoplasias
por: Grau Rubio, Claudia
Publicado: (1993)

Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge
por: Rosato, Barbara Eleni, et al.
Publicado: (2022)

Mlcoalsim: Multilocus Coalescent Simulations
por: Ramos-Onsins, Sebastian E., et al.
Publicado: (2007)

EUS-guided radiofrequency ablation: an option for the extrapancreatic region
por: Armellini, Elia, et al.
Publicado: (2018)

Change during Psychotherapy through Sand Play Tray in Children That Have Been Sexually Abused
por: Tornero, María D. L. Angeles, et al.
Publicado: (2017)

Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic
por: López-Fernández, Adrià, et al.
Publicado: (2021)

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1
por: Mur, Pilar, et al.
Publicado: (2023)

Multilocus Genetic Analysis of Brain Images
por: Hibar, Derrek P., et al.
Publicado: (2011)

Multilocus genetics to reconstruct aeromonad evolution
por: Roger, Frédéric, et al.
Publicado: (2012)

Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment
por: Grabenstetter, Anne, et al.
Publicado: (2020)

P1537: HEREDITARY ANEMIA CAUSED BY MULTILOCUS INHERITANCE OF PIEZO1, SLC4A1 AND ABCB6 MUTATIONS: A DIAGNOSTIC AND THERAPEUTIC CHALLENGE.
por: Rosato, B. E., et al.
Publicado: (2022)

Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia
por: Cuatrecasas, Míriam, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_g7jqap7tdu4ar7f225tdcdkfik