Romy L.S. Mesman
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View article: Data from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Data from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer Open
Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BR…
View article: Supplementary Figures from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Supplementary Figures from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer Open
Figure S1: BCRA2 p.Y3035S Pedigrees. Figure S2: Western blot of ectopically expressed full-length wildtype and mutant hBRCA2 protein in VC8 DR-GFP cells subjected to HDR assay. Figure S3: Purification of wildtype and mutant BRCA2 from huma…
View article: Supplementary Data from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12
Supplementary Data from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12 Open
Fig. S1 to S10. Figure S1. Variant selection from human variation databases; Figure S2. Capillary electrophoresis analyses of BRCA2 exon 12 splicing patterns in minigene assays of presumed LoF variants; Figure S3. Bioinformatics prediction…
View article: Data from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Data from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer Open
Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BR…
View article: Supplementary Tables and References from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Supplementary Tables and References from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer Open
Table S1: Description of the BCAC studies contributing to COGS. Table S2: Predicted effects of BRCA1 and BRCA2 variants included in the iCOGS array on protein function. Table S3: Frequency of BRCA1 and BRCA2 variants from iCOGS in breast c…
View article: Supplementary Tables and References from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Supplementary Tables and References from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer Open
Table S1: Description of the BCAC studies contributing to COGS. Table S2: Predicted effects of BRCA1 and BRCA2 variants included in the iCOGS array on protein function. Table S3: Frequency of BRCA1 and BRCA2 variants from iCOGS in breast c…
View article: Supplementary Data from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12
Supplementary Data from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12 Open
Fig. S1 to S10. Figure S1. Variant selection from human variation databases; Figure S2. Capillary electrophoresis analyses of BRCA2 exon 12 splicing patterns in minigene assays of presumed LoF variants; Figure S3. Bioinformatics prediction…
View article: Data from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12
Data from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12 Open
Germline nonsense and canonical splice site variants identified in disease-causing genes are generally considered as loss-of-function (LoF) alleles and classified as pathogenic. However, a fraction of such variants could maintain function …
View article: Data from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12
Data from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12 Open
Germline nonsense and canonical splice site variants identified in disease-causing genes are generally considered as loss-of-function (LoF) alleles and classified as pathogenic. However, a fraction of such variants could maintain function …
View article: Supplementary Figures from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Supplementary Figures from <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer Open
Figure S1: BCRA2 p.Y3035S Pedigrees. Figure S2: Western blot of ectopically expressed full-length wildtype and mutant hBRCA2 protein in VC8 DR-GFP cells subjected to HDR assay. Figure S3: Purification of wildtype and mutant BRCA2 from huma…
View article: Supplementary Data Tables S1-S4 from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12
Supplementary Data Tables S1-S4 from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12 Open
Supplementary Tables S1-S4. Table S1. Description of primers used in this study. Table S2. Variants selected in BRCA2 exon 12 and its flanking intronic regions. Table S3. Overview of bioinformatics predictions and experimental data obtaine…
View article: Supplementary Data Tables S1-S4 from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12
Supplementary Data Tables S1-S4 from Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12 Open
Supplementary Tables S1-S4. Table S1. Description of primers used in this study. Table S2. Variants selected in BRCA2 exon 12 and its flanking intronic regions. Table S3. Overview of bioinformatics predictions and experimental data obtaine…
View article: Clinical, splicing, and functional analysis to classify <i>BRCA2</i> exon 3 variants: Application of a points‐based ACMG/AMP approach
Clinical, splicing, and functional analysis to classify <i>BRCA2</i> exon 3 variants: Application of a points‐based ACMG/AMP approach Open
Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near …
View article: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 Open
These results allow refinement of variant interpretation guidelines for BRCA2 by providing insight into the functional consequences of naturally occurring and variant-related alternative splicing events.
View article: BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. Open
Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BR…
View article: <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
<i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer Open
Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BR…