A5078812195- BRCA gene mutations in cancer
- Health Systems, Economic Evaluations, Quality of Life
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Genomics and Rare Diseases
- Ovarian cancer diagnosis and treatment
- Breast Cancer Treatment Studies
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Multiple and Secondary Primary Cancers
- Pancreatic and Hepatic Oncology Research
- Advanced Causal Inference Techniques
- Genetic Associations and Epidemiology
- PARP inhibition in cancer therapy
- CRISPR and Genetic Engineering
- Bioinformatics and Genomic Networks
- RNA modifications and cancer
- Prostate Cancer Treatment and Research
- Male Breast Health Studies
- Estrogen and related hormone effects
- Advanced Breast Cancer Therapies
- Science, Research, and Medicine
- Cancer, Lipids, and Metabolism
- Cancer Immunotherapy and Biomarkers
Mayo Clinic in Arizona
2017-2025
Mayo Clinic Hospital
2023-2024
Mayo Clinic
2018-2024
Community Link
2024
Women’s Health Care
2024
Mayo Clinic in Florida
2020-2024
WinnMed
2018-2024
Universidade Federal do Amazonas
2023
Czech Academy of Sciences
2023
Czech Academy of Sciences, Institute of Molecular Genetics
2023
Population-based estimates of the risk breast cancer associated with germline pathogenic variants in cancer-predisposition genes are critically needed for assessment and management women inherited variants.
PurposeDespite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications and genes to include.MethodsTo inform clinical approach MGPT, we comprehensively evaluated 32 predisposition by assessing phenotype-specific pathogenic variant (PV) frequencies, risk associations, performance genetic criteria in a cohort 165,000 patients referred MGPT.ResultsWe identified extensive heterogeneity types commonly germline...
PURPOSE To estimate the risk of contralateral breast cancer (CBC) among women with germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2. METHODS The study population included 15,104 prospectively followed within CARRIERS treated ipsilateral surgery for invasive cancer. CBC was estimated PV carriers each gene compared without PVs a multivariate proportional hazard regression analysis accounting competing death adjusting patient tumor characteristics. primary analyses...
To develop recommendations for germline mutation testing patients with breast cancer.
Germline BRCA2 loss-of function variants, which can be identified through clinical genetic testing, predispose to several cancers1–5. However, variants of uncertain significance limit the utility test results. Thus, there is a need for functional characterization and classification all facilitate management individuals with these variants. Here we analysed possible single-nucleotide from exons 15 26 that encode DNA-binding domain hotspot pathogenic missense To enable this, used saturation...
Background Male breast cancer (MBC) is a rare disease for which there limited understanding of treatment patterns and prognostic factors. Methods Men with TNM stage I to III diagnosed between 2004 2014 in the National Cancer Data Base were included. Trends modalities described using average annual percentage change (AAPC) estimated Joinpoint software analysis trends. Kaplan‐Meier curves multivariate Cox proportional hazards regression model used compare survival subgroups identify Results A...
Immune-related adverse events (irAEs) have emerged as a serious clinical issue in the use of immune checkpoint inhibitors (ICIs). Risk factors for irAEs remain controversial. Therefore, we studied sex differences patients treated with anti-programmed cell death protein 1 (PD-1) therapy.All metastatic melanoma and non-small lung cancer (NSCLC) anti-PD-1 therapy at Mayo Clinic Rochester Florida from 2015 to 2018 were reviewed. Kaplan-Meier method log-rank test was used time-to-event...
BackgroundMetastatic prostate cancer is a clonally heterogeneous disease state characterized by progressive somatic perturbations. The aim of this study was to identify cell free DNA- (cfDNA-) based alterations and their associations with outcomes in metastatic cancer.MethodsIn longitudinal prospective cohort plasma cfDNA/circulating tumor DNA (ctDNA) analyzed before, during, after androgen deprivation therapy (ADT) 4 independent patient groups ranging from untreated hormone sensitive...
To determine the sensitivity and specificity of genetic testing criteria for detection germline pathogenic variants in women with breast cancer.
Mutations in BRCA1 and BRCA2 (BRCA1/2) genes are associated with an increased risk of breast ovarian cancers women. The cancer characteristics men BRCA1/2 mutations less well studied. This study describes the unique male mutation carriers at our institution.We performed a retrospective chart review on patients who were seen between January 2004 December 2014 tested positive for mutation. We evaluated clinical characteristics, pathology findings, treatment selection survival.A total 102...
Abstract Background The germline cancer predisposition genes associated with increased risk of each clinical subtype breast cancer, defined by estrogen receptor (ER), progesterone (PR), and HER2, are not well defined. Methods A total 54 555 invasive patients 56 480 tumors were subjected to hereditary multigene panel testing. Heterogeneity for across subtypes was assessed comparing mutation frequencies gene among tumor association studies between reference controls. Results Mutations in 15...
Screening mammography and magnetic resonance imaging (MRI) are recommended for women with ATM, CHEK2, PALB2 pathogenic variants. However, there few data to guide screening regimens these women.To estimate the benefits harms of breast cancer strategies using MRI at various start ages variants.This comparative modeling analysis used 2 established microsimulation models from Cancer Intervention Surveillance Modeling Network (CISNET) evaluate different strategies. Age-specific risks were...
Abstract The molecular events and transcriptional plasticity driving brain metastasis in clinically relevant breast tumor subtypes has not been determined. Here we comprehensively dissect genomic, transcriptomic clinical data patient-matched longitudinal samples, unravel distinct programs enriched metastasis. We report on subtype specific hub genes functional processes, central to disease-affected networks Importantly, luminal metastases identify homologous recombination deficiency operative...
Among patients with metastatic breast cancer (mBC), the frequency of germline mutations in susceptibility genes and clinical relevance these are unclear. In this study, a prospective cohort mBC was used to determine mutation rates for (BC) predisposition genes, evaluate characteristics mutations, assess influence on patient outcome.
Abstract Background The risks of breast cancer in African American (AA) women associated with inherited mutations predisposition genes are not well defined. Thus, whether multigene germline hereditary testing panels applicable to this population is unknown. We assessed associations between panel-based and risk 5054 AA 4993 unaffected drawn from 10 epidemiologic studies. Methods Germline DNA samples were sequenced for 23 using a QIAseq multiplex amplicon panel. Prevalence odds ratios (ORs)...
It is debated whether teenage pregnancy associated with an adverse reproductive outcome. This study assessed the outcomes in Nepal, a developing setting.A hospital based retrospective cohort of 4,101 deliveries to compare between and non-teenage pregnancies.Pregnancy teenagers was significantly increased risk (P<0.05) delivery very moderately preterm births Low Birth Weight babies. There no significant difference having small for gestational age babies, low APGAR score at birth 1 min 5 min,...
ABSTRACT Background We compared dependence rates, complications, toxicities, and costs associated with prophylactic versus reactive percutaneous endoscopic gastrostomy (PEG) tube placement. Methods One hundred ninety‐three patients locally advanced head neck squamous cell carcinoma treated concurrent chemoradiotherapy were retrospectively reviewed. Results The 1‐year 2‐year actuarial PEG rate of the entire cohort was 24% 13%, respectively. There no difference in rates between those placed...
Introduction: There have been several concerns about the quality of documentation in electronic health records (EHRs) when compared to paper charts. This study compares accuracy physical examination findings between two initial progress notes. Methodology: Initial notes from patients with 5 specific diagnoses invariable admitted Beaumont Hospital, Royal Oak, August 2011 and July 2013 were randomly selected for this study. A total 500 retrospectively reviewed. The chart arm consisted...
Clinicopathological features and the outcomes of patients with fibrolamellar hepatocellular carcinoma (FLHCC) are not clearly defined.Data were collected by retrospective chart review on 42 FLHCC treated between 1990 2017 at Mayo Clinic.Of (median age diagnosis 22 years), 10 (23.8%) had stage I disease 32 (76.2%) II to IVB disease. All 21 II-IVB underwent resection presentation. In patient group, 6 experienced recurrence a median time 30.5 months 5-year overall survival (OS) 86%. Patients...
In studies of men European ancestry, rare pathogenic variants in DNA repair pathway genes have been shown to be associated with risk aggressive prostate cancer. The contribution coding variation cancer African ancestry has not established.
There is a concern that influenza vaccination could increase the incidence of immune-related adverse events (irAEs) in patients with cancer receiving immune checkpoint inhibitors. The aim our study was to determine safety this patient population.