Esther M. John
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View article: Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women
Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women Open
Background: Breast cancer polygenic risk scores (PRS) and traditional risk models (e.g., the Gail model [Gail]) are known to contribute largely independent information, but it is unclear how the overlap varies by ancestry, age, disease typ…
View article: Maternal ethnic group, socioeconomic status, and neonatal and child mortality: a nationwide cohort study in England and Wales
Maternal ethnic group, socioeconomic status, and neonatal and child mortality: a nationwide cohort study in England and Wales Open
None.
View article: Genetic and Cellular Architecture of Breast Cancer Risk in Multi-Ancestry Studies of 159,297 Cases and 212,102 Controls
Genetic and Cellular Architecture of Breast Cancer Risk in Multi-Ancestry Studies of 159,297 Cases and 212,102 Controls Open
SUMMARY Breast cancer genome-wide association studies (GWAS) have identified over 200 independent genome-wide significant susceptibility markers. However, most studies have focused on one or two ancestral groups. We examined breast cancer …
View article: Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women
Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women Open
Breast cancer (BC) is one of the most common cancers globally. Genetic testing facilitates screening and informs targeted risk-reduction and treatments. However, genes included in testing panels are from European-ancestry studies. We condu…
View article: Multi-Ancestry Transcriptome-wide Association Studies Uncover New Insights into Breast Cancer Genetics and Biology
Multi-Ancestry Transcriptome-wide Association Studies Uncover New Insights into Breast Cancer Genetics and Biology Open
Genome-wide association studies (GWAS) have identified over 200 genetic risk loci for breast cancer, yet the target genes in these loci remain largely unknown. To address this knowledge gap, we conducted a series of multi-ancestry transcri…
View article: Polygenic risk of coronary artery disease for long-term survivors of breast cancer
Polygenic risk of coronary artery disease for long-term survivors of breast cancer Open
Background Cardiovascular disease is a leading cause of death for long-term breast cancer survivors. We evaluated whether a polygenic risk score for coronary artery disease (CAD-PRS) was associated with the risk of incident CAD for survivo…
View article: Integrating multi‐ancestry genomic and proteomic data to identify blood risk biomarkers and target proteins for breast cancer genetic risk loci
Integrating multi‐ancestry genomic and proteomic data to identify blood risk biomarkers and target proteins for breast cancer genetic risk loci Open
Genome‐wide association studies (GWAS) have identified more than 200 risk loci for breast cancer. However, target genes and their encoded proteins in these loci remain largely unknown. In this study, we utilized genetic prediction models f…
View article: Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer.
Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer. Open
Breast cancer includes several subtypes with distinct characteristic biological, pathologic, and clinical features. Elucidating subtype-specific genetic etiology could provide insights into the heterogeneity of breast cancer to facilitate …
View article: Projected Tumor Characteristics and Survival of Patients with Nonviral Hepatocellular Carcinoma in the USA
Projected Tumor Characteristics and Survival of Patients with Nonviral Hepatocellular Carcinoma in the USA Open
Introduction: Nonviral liver diseases, including alcohol-associated liver disease (ALD) and metabolic dysfunction-associated steatotic liver disease (MASLD), are increasing the burden of nonviral hepatocellular carcinoma (HCC) in the USA. …
View article: Table 4 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i>
Table 4 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i> Open
Exploratory analysis using multivariable models of the increase in the odds of developing breast cancer in carriers of PVs in genes grouped by ER status of associated cancers by risk factor
View article: Supplementary Methods from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i>
Supplementary Methods from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i> Open
Supplementary methods
View article: Table 1 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i>
Table 1 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i> Open
Participant characteristics of WHI ASs AS508 and AS551
View article: Table 2 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i>
Table 2 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i> Open
Prevalence and penetrance of BRCA1, BRCA2, ATM, CHEK2, and PALB2 PVs
View article: Table 3 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i>
Table 3 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i> Open
Multivariable models of the odds of developing breast cancer in carriers of PVs by risk factor
View article: Data from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i>
Data from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i> Open
There are limited prospective data on whether established risk factors modify breast cancer risk in women with pathogenic variants (PV) in BRCA1/2 and virtually no risk modification data for ATM, CHEK2, or PALB2. We conducted a nested case…
View article: Supplementary Table 1 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i>
Supplementary Table 1 from Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, and <i>PALB2</i> Open
Supplementary Table 1
View article: Socio-demographic differences in the risk of suicides in children and young people: a population level linked study in England, 2011 to 2022
Socio-demographic differences in the risk of suicides in children and young people: a population level linked study in England, 2011 to 2022 Open
Background Suicide is one of the leading causes of death in children and young people (CYP) globally. Over the past decade there has been a steady increase in the number of suicide deaths in CYP in the UK. This study aims to identify socio…
View article: Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i> , <i>BRCA2</i> , <i>ATM</i> , <i>CHEK2</i> , and <i>PALB2</i>
Breast Cancer Risk Modification in Women with Pathogenic Variants in <i>BRCA1</i> , <i>BRCA2</i> , <i>ATM</i> , <i>CHEK2</i> , and <i>PALB2</i> Open
There are limited prospective data on whether established risk factors modify breast cancer risk in women with pathogenic variants (PV) in BRCA1/2 and virtually no risk modification data for ATM, CHEK2, or PALB2. We conducted a nested case…
View article: Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries
Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries Open
Background Breast cancer is multifactorial. Focusing on limited risk factors may miss high-risk individuals. Methods We assessed the performance and overlap of various risk factors in identifying high-risk individuals for invasive breast c…
View article: Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer
Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer Open
The role of germline genetics in adjuvant aromatase inhibitor (AI) treatment efficacy in ER-positive breast cancer is poorly understood. We employed a two-stage candidate gene approach to examine associations between survival endpoints and…
View article: Data from Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage
Data from Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage Open
Background:A substantial portion of the genetic predisposition for breast cancer is explained by multiple common genetic variants of relatively small effect. A subset of these variants, which have been identified mostly in individuals of E…
View article: Supplemental Figure S1 from Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage
Supplemental Figure S1 from Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage Open
Supplemental Figure S1 shows global ancestry distribution of individuals by countries across seven studies included in this analysis.
View article: Supplemental Figure S7 from Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage
Supplemental Figure S7 from Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage Open
Supplemental Figure S7 shows performance of PRS panels in H/L samples with matched age in cases and controls.
View article: Supplemental Table S5 from Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage
Supplemental Table S5 from Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage Open
Supplemental Table S5 shows Comparisons of Areas under the receiver operating characteristics curve (AUC) and odd ratios (OR) per standard deviation of the PRS panels.