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View article: Quantitative ctDNA Profiling of RAS Mutations as a Prognostic Biomarker in Metastatic Colorectal Cancer
Quantitative ctDNA Profiling of RAS Mutations as a Prognostic Biomarker in Metastatic Colorectal Cancer Open
Background: Circulating tumor DNA (ctDNA) analysis offers a non-invasive approach to molecular profiling. While RAS mutations are well-established predictive biomarkers in metastatic colorectal cancer (mCRC), the prognostic value of their …
View article: Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus
Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus Open
View article: The Role of Selection for Function in Aging and Chronic Diseases: A Novel Evolutionary Perspective
The Role of Selection for Function in Aging and Chronic Diseases: A Novel Evolutionary Perspective Open
Aging, and by extension age‐related diseases, has traditionally been understood through classical evolutionary genetic models, such as the mutation accumulation and antagonistic pleiotropy theories. However, these frameworks primarily focu…
View article: Increasing incidence of breast cancer in young women over time
Increasing incidence of breast cancer in young women over time Open
The incidence of early-onset breast cancer (EOBC) has recently been shown to be increasing over time in the US and the UK. Using national cancer registries data including 229,352 BC cases, we show that the incidence rate of EOBC in France …
View article: Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature
Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature Open
Kabuki syndrome type 1 (KS1) is a monogenic disorder arising from pathogenic variants within KMT2D and characterized by syndromic neurodevelopmental delay. We report the retrospective identification of a causative AluY insertion within KMT…
View article: Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes
Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes Open
Background: Women with a familial predisposition to breast cancer (BC) are offered screening at earlier ages and more frequently than women from the general population. Methods: We evaluated the effect of screening mammography in 1552 BC c…
View article: Increasing Incidence of Breast Cancer in Young Women Over Time: A Nationwide Study
Increasing Incidence of Breast Cancer in Young Women Over Time: A Nationwide Study Open
View article: Leveraging selection for function in tumor evolution: System-level cancer therapies
Leveraging selection for function in tumor evolution: System-level cancer therapies Open
Current cancer therapies often fail due to tumor heterogeneity and rapid resistance evolution. A new evolutionary framework, ‘selection for function,’ proposes that tumor progression is driven by group phenotypic composition (GPC) and its …
View article: When Do Tumours Develop? Neoplastic Processes Across Different Timescales: Age, Season and Round the Circadian Clock
When Do Tumours Develop? Neoplastic Processes Across Different Timescales: Age, Season and Round the Circadian Clock Open
While it is recognised that most, if not all, multicellular organisms harbour neoplastic processes within their bodies, the timing of when these undesirable cell proliferations are most likely to occur and progress throughout the organism'…
View article: Characterizing PALB2 intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing
Characterizing PALB2 intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing Open
Introduction Accurate identification and characterization of Large Genomic Rearrangements (LGR), especially duplications, are crucial for precise diagnosis and risk assessment. In this report, we characterized an intragenic duplication bre…
View article: Cancer hygiene hypothesis: A test from wild captive mammals
Cancer hygiene hypothesis: A test from wild captive mammals Open
The hygiene hypothesis, according to which the recent reduction of exposure to infectious agents in the human species would be the origin of various diseases, including autoimmune diseases and cancer, has often been proposed but not proper…
View article: The effect of placentation type, litter size, lactation and gestation length on cancer risk in mammals
The effect of placentation type, litter size, lactation and gestation length on cancer risk in mammals Open
Reproduction is a central activity for all living organisms but is also associated with a diversity of costs that are detrimental for survival. Until recently, the cost of cancer as a selective force has been poorly considered. Considering…
View article: Supplementary Figure 1 from Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in <i>BRCA1/2</i> Carriers
Supplementary Figure 1 from Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in <i>BRCA1/2</i> Carriers Open
Supplementary Figure 1: Representation of BRCA1 and BRCA2 major functional and risk domains (location of codons)
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: Data from Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in <i>BRCA1/2</i> Carriers
Data from Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in <i>BRCA1/2</i> Carriers Open
Background: Mutations in BRCA1/2 confer a high risk of breast cancer, but literature values of this risk vary. A genotype–phenotype correlation has been found in both genes, and the effect of reproductive factors differs acco…
View article: supplementary figures 1 to 13 and supplementary tables 1 to 4 from Targeting the Wnt Pathway and Cancer Stem Cells with Anti-progastrin Humanized Antibodies as a Potential Treatment for K-RAS-Mutated Colorectal Cancer
supplementary figures 1 to 13 and supplementary tables 1 to 4 from Targeting the Wnt Pathway and Cancer Stem Cells with Anti-progastrin Humanized Antibodies as a Potential Treatment for K-RAS-Mutated Colorectal Cancer Open
Contain all the supplemetary data linked to this paper
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 methods from Targeting the Wnt Pathway and Cancer Stem Cells with Anti-progastrin Humanized Antibodies as a Potential Treatment for K-RAS-Mutated Colorectal Cancer
supplementary methods from Targeting the Wnt Pathway and Cancer Stem Cells with Anti-progastrin Humanized Antibodies as a Potential Treatment for K-RAS-Mutated Colorectal Cancer Open
Contain all the supplementary methods linked to this paper
View article: Data from Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in <i>BRCA1/2</i> Carriers
Data from Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in <i>BRCA1/2</i> Carriers Open
Background: Mutations in BRCA1/2 confer a high risk of breast cancer, but literature values of this risk vary. A genotype–phenotype correlation has been found in both genes, and the effect of reproductive factors differs acco…
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 Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
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View article: supplementary figures 1 to 13 and supplementary tables 1 to 4 from Targeting the Wnt Pathway and Cancer Stem Cells with Anti-progastrin Humanized Antibodies as a Potential Treatment for K-RAS-Mutated Colorectal Cancer
supplementary figures 1 to 13 and supplementary tables 1 to 4 from Targeting the Wnt Pathway and Cancer Stem Cells with Anti-progastrin Humanized Antibodies as a Potential Treatment for K-RAS-Mutated Colorectal Cancer Open
Contain all the supplemetary data linked to this paper
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 V…
View article: Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associa…
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 methods from Targeting the Wnt Pathway and Cancer Stem Cells with Anti-progastrin Humanized Antibodies as a Potential Treatment for K-RAS-Mutated Colorectal Cancer
supplementary methods from Targeting the Wnt Pathway and Cancer Stem Cells with Anti-progastrin Humanized Antibodies as a Potential Treatment for K-RAS-Mutated Colorectal Cancer Open
Contain all the supplementary methods linked to this paper
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 V…