Claude Houdayer
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View article: Deciphering dual clinical entities associated with <scp><i>TP53</i></scp> pathogenic variants: Insights from 53,085 <scp>HBOC</scp> panel analyses in French laboratories
Deciphering dual clinical entities associated with <span><i>TP53</i></span> pathogenic variants: Insights from 53,085 <span>HBOC</span> panel analyses in French laboratories Open
TP53 is included in most cancer predisposition multigene panels, especially those exploring Hereditary Breast and Ovarian Cancer (HBOC) predisposition. The purpose of this study was to define the contribution of TP53 pathogenic variants (P…
View article: Behavioural analysis of referral and uptake of care pathways for rare tumour risk syndromes: A cross-cultural mixed-methods study protocol within the PREVENTABLE project
Behavioural analysis of referral and uptake of care pathways for rare tumour risk syndromes: A cross-cultural mixed-methods study protocol within the PREVENTABLE project Open
Background Individuals with rare tumour risk syndromes (RTRS) navigate complex care pathways, including early diagnosis, monitoring, and tailored treatments, all requiring shared decision-making with their clinical team. Nevertheless, beha…
View article: <scp><i>SMAD4</i></scp> mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis
<span><i>SMAD4</i></span> mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis Open
Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps in the gastrointestinal tract, associated with pathogenic variants of BMPR1A and SMAD4 . We present the description of SMAD4 mosaicism in a …
View article: Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel Open
The ENIGMA research consortium ( https://enigmaconsortium.org/ ) develops and applies methods to determine clinical significance of variants in Hereditary Breast and Ovarian Cancer genes. An ENIGMA BRCA1/2 classification sub-group, origina…
View article: A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2
A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2 Open
A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and A…
View article: Predicting the impact of rare variants on RNA splicing in CAGI6
Predicting the impact of rare variants on RNA splicing in CAGI6 Open
Background Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to predict a variant’s impact on splicing are needed to interpret the growing numbe…
View article: Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer
Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer Open
Breast cancer is a frequent disease for which the discovery of markers that enable early detection or prognostic assessment remains challenging. Circular RNAs (circRNAs) are single-stranded structures in closed loops that are produced by b…
View article: Data from Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer
Data from Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer Open
Purpose: BRCA2 plays a central role in homologous recombination by loading RAD51 on DNA breaks. The objective of this study is to determine whether the location of mutations in the RAD51-binding domain (RAD51-BD; exon 11) of BRCA2 gene aff…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Word doc, UNmarked changes. Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinfo…
View article: Supplementary Tables 1-3, Supplementary Figure 1-2 from Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer
Supplementary Tables 1-3, Supplementary Figure 1-2 from Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer Open
Table S1: Multivariate Model of progression-free survival in the study cohort; Table S2: Multivariate Model of overall survival in the study cohort; Table S3: BRCA2 mutations in the study cohort; Figure S1: Flow diagram for selection of pa…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Word doc, UNmarked changes. Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinfo…
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 Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer
Data from Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer Open
Purpose: BRCA2 plays a central role in homologous recombination by loading RAD51 on DNA breaks. The objective of this study is to determine whether the location of mutations in the RAD51-binding domain (RAD51-BD; exon 11) of BRCA2 gene aff…
View article: Supplementary Tables 1-3, Supplementary Figure 1-2 from Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer
Supplementary Tables 1-3, Supplementary Figure 1-2 from Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer Open
Table S1: Multivariate Model of progression-free survival in the study cohort; Table S2: Multivariate Model of overall survival in the study cohort; Table S3: BRCA2 mutations in the study cohort; Figure S1: Flow diagram for selection of pa…
View article: Supplementary Tables from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Tables from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Supp Tables S1-S6 (including variant classification, bioinformatics predictions versus experimental data, primer sequences, summary of biological, clinical, tumoral, familial and multifactorial data, and description of statistical analysis…
View article: Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 VUS, those caus…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinformatics predictions, minigen…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinformatics predictions, minigen…
View article: Supplementary Tables from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Tables from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Supp Tables S1-S6 (including variant classification, bioinformatics predictions versus experimental data, primer sequences, summary of biological, clinical, tumoral, familial and multifactorial data, and description of statistical analysis…
View article: Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Word doc, marked changes. Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinform…
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 Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 VUS, those caus…
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 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 from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System
Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model System Open
Word doc, marked changes. Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinform…
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 Methods from Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with <i>BRCA1/2</i> Inactivation
Supplementary Methods from Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with <i>BRCA1/2</i> Inactivation Open
PDF file - 2.35MB, Experimental set of 65 BLCs, Processing SNP-arrays, Inferring chromosome number, Detection of tumor ploidy, Breakpoints estimation, Validation of LSTs by Next Generation Sequencing and Sanger sequencing, Features of LSTs…