Functional assays for analysis of variants of uncertain significance in BRCA2.
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Molding BRCA2 function through its interacting partnersTwo decades after BRCA: setting paradigms in personalized cancer care and preventionBCL2 mutations are associated with increased risk of transformation and shortened survival in follicular lymphomaMassively Parallel Functional Analysis of BRCA1 RING Domain Variants.Autologous hematopoietic stem cell transplantation in lymphoma patients is associated with a decrease in the double strand break repair capacity of peripheral blood lymphocytesPoly(ADP-Ribose) Mediates the BRCA2-Dependent Early DNA Damage Response.Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients.BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Genomic Biomarkers for Breast Cancer Risk.Insights into the genetic foundations of human communication.Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.Hereditary breast and ovarian cancer: new genes in confined pathways.An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.BRCA Share: A Collection of Clinical BRCA Gene Variants.Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic TestingGenome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway.Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm.The impact of hereditary cancer gene panels on clinical care and lessons learned.Mutational signatures of non-homologous and polymerase theta-mediated end-joining in embryonic stem cells.CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma.Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA
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P2860
Functional assays for analysis of variants of uncertain significance in BRCA2.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 December 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Functional assays for analysis of variants of uncertain significance in BRCA2.
@en
Functional assays for analysis of variants of uncertain significance in BRCA2.
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type
label
Functional assays for analysis of variants of uncertain significance in BRCA2.
@en
Functional assays for analysis of variants of uncertain significance in BRCA2.
@nl
prefLabel
Functional assays for analysis of variants of uncertain significance in BRCA2.
@en
Functional assays for analysis of variants of uncertain significance in BRCA2.
@nl
P2093
P2860
P50
P356
P1433
P1476
Functional assays for analysis of variants of uncertain significance in BRCA2
@en
P2093
ENIGMA consortium
Lucia Guidugli
Maaike P G Vreeswijk
Susan L Neuhausen
Thomas V O Hansen
P2860
P304
P356
10.1002/HUMU.22478
P577
2013-12-03T00:00:00Z