Janet E. Olson
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View article: Plasma assay of methylated DNA markers detects recurrent metastatic breast cancer
Plasma assay of methylated DNA markers detects recurrent metastatic breast cancer Open
Up to 30% of women with no evidence of disease after curative intent breast cancer treatment will relapse and succumb to metastatic disease. Liquid biopsy of circulating tumor DNA (ctDNA) has been shown to identify patients with relapse pr…
View article: CHIP amplifies the risk of lymphoid malignancies in individuals with monoclonal B-cell lymphocytosis (MBL)
CHIP amplifies the risk of lymphoid malignancies in individuals with monoclonal B-cell lymphocytosis (MBL) Open
Monoclonal B-cell lymphocytosis (MBL) and clonal hematopoiesis of indeterminate potential (CHIP) are prevalent clonal precursors associated with increased risk of lymphoid malignancies. However, the relationship between MBL and CHIP and th…
View article: Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer
Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer Open
The breast cancer risk conferred by germline protein truncating variants (PTVs) in known and putative breast cancer genes has been extensively investigated. However, the effect of FANCM PTVs on breast cancer risk remains unclear. Our previ…
View article: Development of a Machine Learning Model for Predicting Treatment-Related Amenorrhea in Young Women with Breast Cancer
Development of a Machine Learning Model for Predicting Treatment-Related Amenorrhea in Young Women with Breast Cancer Open
Treatment-induced ovarian function loss is a significant concern for many young patients with breast cancer. Accurately predicting this risk is crucial for counselling young patients and informing their fertility-related decision-making. H…
View article: Factors associated with sleep disturbance in breast cancer survivors over time
Factors associated with sleep disturbance in breast cancer survivors over time Open
Background Breast cancer (BC) survivors frequently experience sleep disturbances, which may persist for many years after treatment. This study aimed to describe trends in sleep-related symptoms over time and identify factors that may be as…
View article: A Comparative Study of Quality of Life and Oncologic Outcomes in Premenopausal Women with Hormone Receptor-Positive Breast Cancer: Bilateral Oophorectomy vs. Gonadotropin-Releasing Hormone Agonist Therapy
A Comparative Study of Quality of Life and Oncologic Outcomes in Premenopausal Women with Hormone Receptor-Positive Breast Cancer: Bilateral Oophorectomy vs. Gonadotropin-Releasing Hormone Agonist Therapy Open
Background/Objectives: This study aims to evaluate the quality of life (QoL) and oncological outcomes in premenopausal women diagnosed with hormone receptor-positive breast cancer who are receiving either bilateral oophorectomy (BO) or gon…
View article: Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification Open
Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complica…
View article: Trajectory of Global Mental Health and Global Physical Health in Breast Cancer Survivorship
Trajectory of Global Mental Health and Global Physical Health in Breast Cancer Survivorship Open
Background: Breast cancer survivors face a risk of significant psychological distress, which can persist for years after their initial diagnosis. Although numerous guidelines and tools exist to help screen for and measure distress in patie…
View article: UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP
UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP Open
Clonal hematopoiesis (CH) of indeterminate potential (CHIP), driven by somatic mutations in leukemia-associated genes, confers increased risk of hematologic malignancies, cardiovascular disease, and all-cause mortality. In blood of healthy…
View article: Genotype-Epigenome-Phenotype Integration Reveals the Contributions of Peripheral Immune Cells to Bipolar Disorder Pathogenesis, Phenotypic Heterogeneity, and Therapy
Genotype-Epigenome-Phenotype Integration Reveals the Contributions of Peripheral Immune Cells to Bipolar Disorder Pathogenesis, Phenotypic Heterogeneity, and Therapy Open
Immune dysfunctions are believed to contribute to bipolar disorder (BD), yet their mechanistic basis remains unclear. To address this, we systematically characterize BD-associated epigenomic and genetic variation in peripheral blood immune…
View article: Sangre Por Salud (SPS) Biobank: cohort profile
Sangre Por Salud (SPS) Biobank: cohort profile Open
Purpose The Sangre Por Salud (SPS) Biobank was established to facilitate biomedical research opportunities for the Latino community by creating an easily accessible prospective cohort for scientists interested in studying health conditions…
View article: Musician's Experience After Breast Cancer Treatment: Defining Musical Toxicity and its Frequency
Musician's Experience After Breast Cancer Treatment: Defining Musical Toxicity and its Frequency Open
PURPOSE Over 50% of households in the United States have at least one musician—many musicians are also breast cancer survivors. This group has not been well studied, and given the level of fine sensory-motor skill required for musicianship…
View article: Data Supplement 1 from Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma <i>In Situ</i> of the Breast
Data Supplement 1 from Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma <i>In Situ</i> of the Breast Open
Supplemental methods, references and tables
View article: Data from Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma <i>In Situ</i> of the Breast
Data from Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma <i>In Situ</i> of the Breast Open
Purpose:To determine the relationship between germline pathogenic variants (PV) in cancer predisposition genes and the risk of ductal carcinoma in situ (DCIS).Experimental Design:Germline PV frequencies in breast cancer predisposition gene…
View article: Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma <i>In Situ</i> of the Breast
Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma <i>In Situ</i> of the Breast Open
Purpose: To determine the relationship between germline pathogenic variants (PV) in cancer predisposition genes and the risk of ductal carcinoma in situ (DCIS). Experimental Design: Germline PV frequencies in breast cancer predisposition g…
View article: Mosaic chromosomal alterations (mCAs) in individuals with monoclonal B-cell lymphocytosis (MBL)
Mosaic chromosomal alterations (mCAs) in individuals with monoclonal B-cell lymphocytosis (MBL) Open
MBL is a precursor condition to chronic lymphocytic leukemia (CLL), characterized by monoclonal B-cells in blood. Mosaic chromosomal alterations (mCAs) are a form of clonal hematopoiesis that include gains, losses, and copy-neutral loss-of…
View article: A Method for Electrical Stimulus Artifact Removal Exploiting Neural Refractoriness: Validation by Contrasting Cathodic and Anodic Stimulation
A Method for Electrical Stimulus Artifact Removal Exploiting Neural Refractoriness: Validation by Contrasting Cathodic and Anodic Stimulation Open
Objective To present a novel method for removing stimulus transient that exploits the absolute refractory period of electrically excitable neural tissues. Background Electrical stimulation often generates significant signal artifacts that …
View article: Risk of Incident Melanoma Among Individuals With Low-Count Monoclonal B-Cell Lymphocytosis
Risk of Incident Melanoma Among Individuals With Low-Count Monoclonal B-Cell Lymphocytosis Open
PURPOSE Chronic lymphocytic leukemia (CLL)–phenotype monoclonal B-cell lymphocytosis (MBL) is a premalignant condition that is roughly 500-fold more common than CLL. It is unknown whether the two-fold increased risk of developing melanoma …
View article: Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification Open
Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complica…
View article: A Multiomics, Molecular Atlas of Breast Cancer Survivors
A Multiomics, Molecular Atlas of Breast Cancer Survivors Open
Breast cancer imposes a significant burden globally. While the survival rate is steadily improving, much remains to be elucidated. This observational, single time point, multiomic study utilizing genomics, proteomics, targeted and untarget…
View article: Advocate-BREAST80+: A Comprehensive Patient and Advocate-Led Study to Enhance Breast Cancer Care Delivery and Patient-Centered Research in Women Aged ≥80 Years
Advocate-BREAST80+: A Comprehensive Patient and Advocate-Led Study to Enhance Breast Cancer Care Delivery and Patient-Centered Research in Women Aged ≥80 Years Open
Background: There are limited evidence-based data to guide treatment recommendations for breast cancer (BC) patients ≥80 years (P80+). Identifying and addressing unmet needs are critical. Aims: Advocate-BREAST80+ compared the needs of P80+…
View article: Advocate-BREAST80+: A Comprehensive Patient and Advocate-Led Study to Enhance Breast Cancer Care Delivery and Patient-Centered Research in Women aged ≥ 80 years
Advocate-BREAST80+: A Comprehensive Patient and Advocate-Led Study to Enhance Breast Cancer Care Delivery and Patient-Centered Research in Women aged ≥ 80 years Open
Background: There are limited evidence-based data to guide treatment recommendations for breast cancer (BC) patients ≥ 80 years (P80+). Identifying and addressing unmet needs are critical. Aims: Advocate-BREAST80+ compared the needs of P80…
View article: Unified somatic calling and machine learning-based classification enhance the discovery of clonal hematopoiesis of indeterminate potential
Unified somatic calling and machine learning-based classification enhance the discovery of clonal hematopoiesis of indeterminate potential Open
Clonal hematopoiesis (CH) of indeterminate potential (CHIP), driven by somatic mutations in leukemia-associated genes, confers increased risk of hematologic malignancies, cardiovascular disease and all-cause mortality. In blood of healthy …
View article: A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis Open
Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of ger…
View article: Combined Associations of a Polygenic Risk Score and Classical Risk Factors with Breast Cancer Risk
Combined Associations of a Polygenic Risk Score and Classical Risk Factors with Breast Cancer Risk Open
We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72 284 cases and 80 354 controls from the Breast Cancer Association Consort…