Amanda E. Toland
YOU?
Author Swipe
View article: Genomic characterization of colorectal tumors: insights into significantly mutated genes, pathways, and survival outcomes
Genomic characterization of colorectal tumors: insights into significantly mutated genes, pathways, and survival outcomes Open
Background Identifying significantly mutated genes in tumors aids in understanding disease etiology and survival and may aid in the discovery of new drug targets. We aimed to detect and characterize mutated genes from a large, well-charact…
View article: Physical activity and molecular subtypes of colorectal cancer: a pooled observational analysis and Mendelian randomization study
Physical activity and molecular subtypes of colorectal cancer: a pooled observational analysis and Mendelian randomization study Open
Background Physical activity is associated with lower colorectal cancer (CRC) risk, but its association with molecular subtypes defined by genetic and epigenetic alterations of the disease is unclear. Such information may enhance the under…
View article: Supplementary Figure S2 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S2 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Optimization of the timepoint after exposure to IR for collection of cells for pKAP1 flow cytometric assays.
View article: Supplementary Figure S7 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S7 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Schematic diagram of key steps and a timeline for functional testing of ATM variants from the final cloning step to generate the lentiviral-ATMco expression construct to phospho-flow functional assays and quality assurance measures.
View article: Supplementary Figure S3 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S3 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Immunoblots demonstrating expression of WT ATM, and benign and stable pathogenic missense controls, in ATM-deficient cells, and their activities against multiple substrates.
View article: Supplementary Table S1 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Table S1 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Parameters of variants and assignment of ACMG points for controls and VUS that were functionally tested in our study.
View article: Supplementary Figure S11 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S11 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Insights into structural effects of selected deleterious variants in the N- and C-terminal lobes within the Kinase domain of human ATM.
View article: Supplementary Figure S12 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S12 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Immortalization with SV40 lg T-antigen does not affect pKAP1 phospho-flow assays in A-T and non A-T cell lines.
View article: Supplementary Table S3 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Table S3 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Representativeness of Study Participants.
View article: Data from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Data from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Purpose:ATM is a moderate-risk cancer susceptibility gene that harbors thousands of missense variants of uncertain significance (VUS) which limit the power of clinical genetic testing for cancer risk management and personalized medicine. F…
View article: Supplementary Figure S10 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S10 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
ACMG-based reclassification of the initial VUS set and controls subdivided by how they tested functionally utilizing the pKAP1 phospho-flow assay, and as three categories of standards, respectively.
View article: Supplementary Figure S8 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S8 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Immunoblots displaying expression levels for all VUS functionally tested in this study in comparison to WT ATM.
View article: Supplementary Figure S5 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S5 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Immunoblots for nptII demonstrate instability of each of the 9 pathogenic truncating ATM controls.
View article: Supplementary Figure S6 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S6 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
IR sensitivity curves for ATM-V2716A in comparison to WT ATM and two pathogenic missense controls.
View article: Supplementary Figure S9 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S9 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Calibration of pS824 KAP1 flow cytometric functional assays in an additional ATM-deficient cell line from an A-T patient.
View article: Supplementary Figure S1 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S1 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Quantification for pCHK2 and pP53 immunoblots shown in Fig. 1D.
View article: Supplementary Figure S4 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Figure S4 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Immunoblots for nptII demonstrate expression of various pathogenic missense ATM controls with differing levels of stability.
View article: Supplementary Table S2 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework
Supplementary Table S2 from Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework Open
Summary of controls and variants with functional results and final ACMG-based classifications.
View article: Table S11 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Table S11 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Association between ABSI, colorectal cancer, and its molecular subtypes stratifying by early and later-onset.
View article: Data from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Data from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Background:Waist circumference (WC) and its allometric counterpart, “a body shape index” (ABSI), are risk factors for colorectal cancer; however, it is uncertain whether associations with these body measurements are limited to specific mol…
View article: Table S8 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Table S8 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Association between A Body Shape Index (ABSI), distal colon cancer, and its molecular subtypes.
View article: Table S7 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Table S7 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Association between A Body Shape Index (ABSI), proximal colon cancer, and its molecular subtypes.
View article: Table S12 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Table S12 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Association between waist circumference, colorectal cancer, and its molecular subtypes after conducting multiple imputation.
View article: Table S5 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Table S5 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Association between waist circumference, distal colon cancer, and its molecular subtypes.
View article: Table S10 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Table S10 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Association between waist circumference, colorectal cancer, and its molecular subtypes stratifying by early and later-onset.
View article: Table S9 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Table S9 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Association between A Body Shape Index (ABSI), rectal cancer, and its molecular subtypes.
View article: Table S2 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Table S2 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Summary of study-specific assessment of microsatellite instability (MSI) status.
View article: Supplementary Material & Method from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Supplementary Material & Method from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Supplementary Material & Method
View article: Table S1 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies
Table S1 from Waist Circumference, a Body Shape Index, and Molecular Subtypes of Colorectal Cancer: A Pooled Analysis of Four Cohort Studies Open
Description of participating studies.