Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis
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Title
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis
Authors
Keywords
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Journal
Familial Cancer
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2021-01-20
DOI
10.1007/s10689-020-00224-y
References
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Related references
Note: Only part of the references are listed.- Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2
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- Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system
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- Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
- (2019) Rita D. Brandão et al. INTERNATIONAL JOURNAL OF CANCER
- Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
- (2019) Elisa Gelli et al. Cancers
- Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays
- (2019) Eugenia Fraile‐Bethencourt et al. JOURNAL OF PATHOLOGY
- First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild‐type transcripts
- (2019) Jin‐Huan Lin et al. HUMAN MUTATION
- Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
- (2019) Michael T. Parsons et al. HUMAN MUTATION
- Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes
- (2019) Gemma Montalban et al. HUMAN MUTATION
- The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
- (2018) Mara Colombo et al. HUMAN MUTATION
- Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants
- (2018) Vanessa L. Lattimore et al. Frontiers in Oncology
- Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
- (2018) Ahmad N. Abou Tayoun et al. HUMAN MUTATION
- Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing
- (2018) Jacqueline Mersch et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
- (2018) Alejandro Moles-Fernández et al. Frontiers in Genetics
- Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer
- (2017) Grégoire Davy et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18
- (2017) Eugenia Fraile-Bethencourt et al. PLoS Genetics
- Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
- (2016) Miguel de la Hoya et al. HUMAN MOLECULAR GENETICS
- BRCA2 minor transcript lacking exons 4–7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation
- (2016) Eswary Thirthagiri et al. HUMAN MOLECULAR GENETICS
- Naturally occurringBRCA2alternative mRNA splicing events in clinically relevant samples
- (2016) James D Fackenthal et al. JOURNAL OF MEDICAL GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes
- (2014) Dmitry Pruss et al. BREAST CANCER RESEARCH AND TREATMENT
- A comprehensive survey of non-canonical splice sites in the human transcriptome
- (2014) Guillermo E. Parada et al. NUCLEIC ACIDS RESEARCH
- A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay
- (2011) K. Biswas et al. BLOOD
- Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing
- (2011) Rita Dias Brandão et al. BREAST CANCER RESEARCH AND TREATMENT
- Structural basis for recruitment of BRCA2 by PALB2
- (2009) Antony W Oliver et al. EMBO REPORTS
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