Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

To improve methods for predicting the impact of missense variants of uncertain significance (VUS) in BRCA1 and BRCA2 on protein function.Functional data for 248 BRCA1 and 207 BRCA2 variants from assays with established high sensitivity and specificity for damaging variants were used to recalibrate 4...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Steven N. Hart, Tanya L. Hoskin, Hermela Shimelis, Raymond M. Moore, Bing Feng, Abigail Thomas, Noralane M. Lindor, Eric C. Polley, David E. Goldgar, Edwin S. Iversen, Álvaro N.A. Monteiro, Vera J. Suman, Fergus J. Couch
Μορφή:	Artigo
Γλώσσα:	Αγγλικά
Έκδοση:	2018
Διαθέσιμο Online:	https://doi.org/10.1038/s41436-018-0018-4 https://www.nature.com/articles/s41436-018-0018-4.pdf
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Παρόμοια τεκμήρια

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models
από: Hart, Steven N., κ.ά.
Έκδοση: (2018)

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches
από: Guidugli, Lucia, κ.ά.
Έκδοση: (2018)

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches
από: Lucia Guidugli, κ.ά.
Έκδοση: (2018)

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML
από: Hart, Steven N., κ.ά.
Έκδοση: (2020)

A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
από: Lindor, Noralane M., κ.ά.
Έκδοση: (2011)

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
από: Noralane M. Lindor, κ.ά.
Έκδοση: (2011)

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance
από: Iversen, Edwin S., κ.ά.
Έκδοση: (2022)

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort
από: Li, Hongyan, κ.ά.
Έκδοση: (2019)

A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data With Application to BRCA1
από: Iversen, Edwin S., κ.ά.
Έκδοση: (2011)

Functional assays for BRCA1 and BRCA2
από: Carvalho, Marcelo A., κ.ά.
Έκδοση: (2006)

Functional assays for BRCA1 and BRCA2
από: Marcelo A. Carvalho, κ.ά.
Έκδοση: (2006)

A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data with Application to <i>BRCA1</i>
από: Edwin S. Iversen, κ.ά.
Έκδοση: (2011)

BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management
από: Lindor, Noralane M., κ.ά.
Έκδοση: (2013)

BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management
από: Noralane M. Lindor, κ.ά.
Έκδοση: (2013)

Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation
από: Golubeva, Volha A., κ.ά.
Έκδοση: (2019)

Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes
από: Welsh, Jessemae L., κ.ά.
Έκδοση: (2017)

Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes
από: Jessemae L. Welsh, κ.ά.
Έκδοση: (2017)

A classification model for BRCA2 DNA binding domain missense variants based on homology directed repair activity
από: Guidugli, Lucia, κ.ά.
Έκδοση: (2012)

Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2
από: Goldgar, David E., κ.ά.
Έκδοση: (2004)

Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2
από: David E. Goldgar, κ.ά.
Έκδοση: (2004)

Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs
από: Maxime Vallée, κ.ά.
Έκδοση: (2011)

Classification of Missense Substitutions in the BRCA Genes: a Database Dedicated to Ex-UVs
από: Vallée, Maxime P., κ.ά.
Έκδοση: (2011)

A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
από: Douglas F. Easton, κ.ά.
Έκδοση: (2007)

A Classification Model for <i>BRCA2</i> DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity
από: Lucia Guidugli, κ.ά.
Έκδοση: (2012)

A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
από: Easton, Douglas F. , κ.ά.
Έκδοση: (2007)

Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study
από: Lindor, Noralane M., κ.ά.
Έκδοση: (2010)

An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
από: Chenevix-Trench, Georgia, κ.ά.
Έκδοση: (2007)

An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
από: Georgia Chenevix‐Trench, κ.ά.
Έκδοση: (2007)

BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance
από: Diana Eccles, κ.ά.
Έκδοση: (2015)

Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing
από: Scherr, Courtney L., κ.ά.
Έκδοση: (2015)

From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals
από: Augusto, Bianca M., κ.ά.
Έκδοση: (2017)

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
από: Logan C. Walker, κ.ά.
Έκδοση: (2010)

Probing Structure-Function Relationships in Missense Variants in the Carboxy-Terminal Region of BRCA1
από: Carvalho, Renato S., κ.ά.
Έκδοση: (2014)

Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis
από: Carvalho, Marcelo A., κ.ά.
Έκδοση: (2007)

Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis
από: Marcelo A. Carvalho, κ.ά.
Έκδοση: (2007)

Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity
από: Walker, Logan C., κ.ά.
Έκδοση: (2010)

Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer
από: Chiba, Akiko, κ.ά.
Έκδοση: (2016)

Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer
από: Akiko Chiba, κ.ά.
Έκδοση: (2016)

Probing Structure-Function Relationships in Missense Variants in the Carboxy-Terminal Region of BRCA1
από: Renato S. Carvalho, κ.ά.
Έκδοση: (2014)

Structure-Based Assessment of Missense Mutations in Human BRCA1
από: Nebojša Mirković, κ.ά.
Έκδοση: (2004)