Importance: Heterogeneity in development of estrogen receptor (ER)-specific first primary breast cancer exists due to deleterious germline variants in moderate- to high-penetrance breast cancer susceptibility genes, but it is unknown if these associations occur in ER-specific CBC.
Objective: To determine the association of deleterious germline variants in breast cancer susceptibility genes with ER-specific CBC development and whether ER status of the first primary breast cancer modifies these associations.
Design, Setting, And Participants: This case-control study included CBC cases and matched unilateral breast cancer controls from The Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study, a population-based case-control study.
Germline BRCA2 loss-of function variants, which can be identified through clinical genetic testing, predispose to several cancers. However, variants of uncertain significance limit the clinical utility of test results. Thus, there is a need for functional characterization and clinical classification of all BRCA2 variants to facilitate the clinical management of individuals with these variants.
View Article and Find Full Text PDFObjective: Test the feasibility and effectiveness of a text message reminder intervention for the self-management of oral anticancer medication in patients with metastatic breast cancer.
Methods: Forty-three females initiating treatment with palbociclib participated in a two-armed prospective randomized clinical trial. Participants were randomized into the control ( = 21) and intervention groups ( = 22) from January 2020 to January 2023.
Introduction: Recent trial-level meta-analyses have established disease-free survival (DFS) as a valid surrogate for overall survival (OS) in human epidermal growth factor receptor 2-negative (HER2-) breast cancer (BC), irrespective of disease stage, and in early-stage hormone receptor-positive (HR+)/HER2- BC. To advance the understanding of the association between additional DFS endpoints and OS, this study assessed the patient-level correlations between DFS and OS, invasive DFS (IDFS) and OS, and distant DFS (DDFS) and OS in Medicare beneficiaries with early-stage HER2- BC, overall and in subgroups of patients with HR+/HER2- BC and triple-negative BC (TNBC).
Methods: Patients with stages I-III HER2- BC aged ≥ 66 years were identified from SEER-Medicare data (2010-2019).
Background: In view of the conflicting results from previous studies, the benefit of paclitaxel-coated balloons for arteriovenous fistulas is uncertain and equipoise remains. Although an industry-led trial testing the efficacy of sirolimus-coated balloons in AVFs is in progress, the benefit of sirolimus-coated balloons for arteriovenous fistulas is currently unknown. The purpose of this trial is to compare the efficacy of additional paclitaxel-coated or sirolimus-coated balloons on outcomes after a plain balloon fistuloplasty to preserve the patency of arteriovenous fistulae used for haemodialysis.
View Article and Find Full Text PDFBackground: The global rise in kidney diseases underscores the need for reliable, noninvasive imaging biomarkers. Among these, renal cortical T1 has shown promise but further technical validation is still required.
Purpose: To evaluate the repeatability, reproducibility, and observer variability of kidney cortical T1 mapping in human volunteers without known renal disease.
Aim: The purpose of this study was to develop a radiomic-based machine-learning model to predict triple-negative breast cancer (TNBC) based on the contralateral unaffected breast's fibroglandular tissue (FGT) in breast cancer patients.
Materials And Methods: This study retrospectively included 541 patients (mean age, 51 years; range, 26-82) who underwent a screening breast MRI between November 2016 and September 2018 and who were subsequently diagnosed with biopsy-confirmed, treatment-naïve breast cancer. Patients were divided into training ( = 250) and validation ( = 291) sets.
After disease progression on endocrine therapy (ET) plus a CDK4/6 inhibitor, there is no standardized sequence for subsequent treatment lines for estrogen receptor positive (ER+) metastatic breast cancer (MBC). CDK4/6i retrial as a treatment strategy is commonplace in modern clinical practice; however, the available prospective data investigating this strategy have had inconclusive results. To frame this data in a real-world context, we performed a retrospective analysis assessing the efficacy of CDK4/6is in 195 patients who had previous exposure to CDK4/6i in a prior treatment line at our institution.
View Article and Find Full Text PDFThis survey aimed to acquire and generate significant information on coffee cultivation in high and low elevations to support agriculture during climate change. This survey dataset helps understand coffee cultivation in highland and lowland areas with diverse climates and environmental conditions for coffee researchers to use this data to improve cultivation and production techniques. In the business scope, this dataset provides a critical vision on the value proposition of the coffee business to maintain conservation and wealth creation of the coffee chain.
View Article and Find Full Text PDFThe co-occurrence of germline and somatic oncogenic alterations is frequently observed in breast cancer, but their combined biologic and clinical significance has not been evaluated. To assess the role of germline-somatic interactions on outcomes in routine practice, we developed an integrated clinicogenomic pipeline to analyze the genomes of over 4,500 patients with breast cancer. We find that germline (g) -associated tumors are enriched for loss-of-function mutations and manifest poor outcomes on standard-of-care, front-line CDK4/6 inhibitor (CDK4/6i) combinations.
View Article and Find Full Text PDFSaliva is valuable in exposure assessment having been successfully used for drug and environmental pollutant detection, providing a surrogate measure of plasma concentrations. Pyrethroid biomarkers have not previously been assessed in saliva, although are prime candidates for saliva detection. This study's objectives were to 1) develop a liquid-liquid extraction (LLE) method to quantify six pyrethroid metabolites using gas chromatography/ion trap mass spectrometry and 2) assess its application for an occupationally exposed population.
View Article and Find Full Text PDFBy exploiting different tissues' characteristic T relaxation times, T-weighted images help distinguish normal and abnormal tissues, aiding assessment of diffuse and local pathologies. However, such images do not provide quantitative T values. Advances in abdominal MRI techniques have enabled measurement of abdominal organs' T relaxation times, which can be used to create color-coded quantitative maps.
View Article and Find Full Text PDFBackground: Areca nut (AN) use receives less global attention than tobacco use. Studies have linked AN consumption to a range of adverse health effects, including oral cavity and pharyngeal cancers, periodontal diseases, cardiovascular diseases, diabetes, hypertension, and addiction. The masticatory use of AN is rampant in Bhutan.
View Article and Find Full Text PDFObjective: Adherence to healthy lifestyle advice is effective in prevention of non-communicable diseases like coronary heart disease (CHD). Yet patient disengagement is the norm. We take a novel discursive approach to explore patients' negotiation of lifestyle advice and behaviour change.
View Article and Find Full Text PDFHeteromorphic sex chromosomes (XY or ZW) present problems of gene dosage imbalance between sexes and with autosomes. A need for dosage compensation has long been thought to be critical in vertebrates. However, this was questioned by findings of unequal mRNA abundance measurements in monotreme mammals and birds.
View Article and Find Full Text PDFSimultaneous presentation of two separate primary breast cancers of differing histology at initial diagnosis is an uncommon phenomenon; it is even rarer to find these pathologically distinct populations within the same biopsy. Here we report the case of a patient diagnosed with clearly demarcated, pathologically heterogenous triple negative breast cancer (TNBC) and HER2+ breast cancer that was treated with a hybrid chemoimmunotherapy regimen combining elements of Keynote-522 and a standard HER2-directed neoadjuvant regimen, yielding apathologic complete response by the time of surgery with no notable adverse events. Molecular analysis of the histologically distinct tumor populations confirmed molecular evidence of differential HER2 expression but also suggested clonal relatedness of the two tumor populations based upon mutational profile, with phenotypic divergence potentially resulting from copy number alterations in NF1.
View Article and Find Full Text PDFBRCA1 and BRCA2 pathogenic variant carriers develop breast cancers with distinct pathological characteristics and mutational signatures that may result in differential response to chemotherapy. We compared rates of pathologic complete response (pCR) after NAC between BRCA1/2 variant carriers and noncarriers in a cohort of 1426 women (92 [6.5%] BRCA1 and 73 [5.
View Article and Find Full Text PDFAcquired resistance to PARP inhibitors (PARPi) remains a treatment challenge for BRCA1/2-mutant breast cancer that drastically shortens patient survival. Although several resistance mechanisms have been identified, none have been successfully targeted in the clinic. Using new PARPi-resistance models of Brca1- and Bard1-mutant breast cancer generated in-vivo, we identified FLT1 (VEGFR1) as a driver of resistance.
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