A5070233823- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Breast Cancer Treatment Studies
- Digital Radiography and Breast Imaging
- DNA Repair Mechanisms
- Radiomics and Machine Learning in Medical Imaging
- HER2/EGFR in Cancer Research
- Cancer Immunotherapy and Biomarkers
- AI in cancer detection
- Advanced X-ray Imaging Techniques
- Genetic factors in colorectal cancer
- Advanced Breast Cancer Therapies
- Breast Lesions and Carcinomas
- Immunotherapy and Immune Responses
- Cancer Cells and Metastasis
- Genetic Associations and Epidemiology
- Ovarian cancer diagnosis and treatment
- Infrared Thermography in Medicine
- Genomics and Rare Diseases
- Wound Healing and Treatments
- Advanced Glycation End Products research
- Reproductive Biology and Fertility
- MRI in cancer diagnosis
- Lysosomal Storage Disorders Research
- Colorectal Cancer Surgical Treatments
Universitätsklinikum Erlangen
2015-2023
Friedrich-Alexander-Universität Erlangen-Nürnberg
2016-2023
Comprehensive Cancer Center Erlangen
2015-2022
University Medical Centre Mannheim
2020
Heidelberg University
2013
Breast and ovarian cancer (BC/OC) predisposition has been attributed to a number of high‐ moderate low‐penetrance susceptibility genes. With the advent next generation sequencing (NGS) simultaneous testing these genes become feasible. In this monocentric study, we report results panel‐based screening 14 BC/OC ( BRCA1, BRCA2, RAD51C, RAD51D, CHEK2, PALB2, ATM, NBN, CDH1, TP53, MLH1, MSH2, MSH6 PMS2 ) in group 581 consecutive individuals from German population with BC and/or OC fulfilling...
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.
In typical data analysis projects in biology and healthcare, simpler predictive models, such as regressions decision trees, enjoy more popularity than complex expressive ones, neural networks. One reason for this is that the functioning of models easier to explain, which greatly increases user acceptance. A network, on contrary, often regarded a black box model, because its very strength modeling interactions also makes operation almost impossible explain. Still, networks remain interesting...
Methylglyoxal (MG), the major dicarbonyl substrate of enzyme glyoxalase 1 (GLO1), is a reactive metabolite formed via glycolytic flux. Decreased GLO1 activity in situ has been shown to result an accumulation MG and increased formation advanced glycation endproducts, both which can accumulate during physiological aging at accelerated rate diabetes other chronic degenerative diseases. To determine consequences from elevated levels role aging, wound healing young (≤12 weeks) old (≥52 wild-type...
Abstract Background Cardiac complications driven by microvascular changes are one of the primary reasons for mortality in patients with Fabry disease (FD). While enzyme replacement therapy (ERT) can effectively clear globotriaosylceramide (Gb3) deposits endothelium, it remains controversial whether ERT fully resolves dysfunction, particularly advanced cases. Methods We conducted a cross-sectional observational study 63 FD patients, whom 60 had quality retinal vessel analysis (RVA) data and...
Over the last two decades genetic testing for mutations in BRCA1 and BRCA2 has become standard of care women men who are at familial risk breast or ovarian cancer. Currently, more often also includes so-called panel genes, which assumed to be moderate-risk genes Recently, new large-scale studies provided information about estimation those genes. The utilization on with regard their association individual cancer might part future clinical practice. Furthermore, large efforts have been made...
Despite advancements in the treatment of primary and metastatic breast cancer, many patients lack a durable response to these treatments. Patients with triple-negative cancer (TNBC) human epidermal growth factor receptor 2(HER2)-positive who do not have pathological complete (pCR) after neoadjuvant chemotherapy (NACT) very poor prognosis. Tumor-infiltrating lymphocytes (TILs) been identified as predictive marker for pCR NACT TNBC HER2-positive cancer. These patient populations could also be...
Studies of triple-negative breast cancer have recently been extending the inclusion criteria and incorporating additional molecular markers into selection criteria, opening up scope for targeted therapies. The screening phases required studies this type are often prolonged, since process determining subtype carrying out biomarker assessment is time-consuming. Parameters such as germline genotypes capable predicting before it becomes available from pathology might be helpful treatment...
Abstract The immunosuppressive human leukocyte antigens HLA-G and HLA-F are expressed on trophoblast malignant cells. Four membrane-bound three soluble protein isoforms have been described, which different potentials. has transcript variants, resulting in isoforms. aim of this study was to evaluate the prognostic predictive value isoform expression patterns patients with breast cancer. Core biopsies were taken at diagnosis HER2+ (n = 28), luminal B-like 49) triple-negative 38) cancers who...
Breast cancer is the most common in women. 12-15% of all tumors are triple-negative breast cancers (TNBC). So far, TNBC has been mainly associated with mutations BRCA1. The presence other predisposing genes seems likely since DNA damage repair a complex process that involves several genes. Therefore we investigated if involved development and whether an additional indicator mutational status besides family history age onset.We performed germline panel-based screening 10 high low-moderate...
Background X‐ray dark‐field radiography could enhance mammography by providing more information on imaged tissue and microcalcifications. The dark field signal is a measure of small angle scattering can thus provide additional the materials. This be useful for material distinction calcifications diagnosis breast cancer classifying benign malign association these calcifications. Methods: For this study, institutional review board approval was obtained. We present evaluation images acquired...
In intermediate risk hormone receptor (HR) positive, HER2 negative breast cancer (BC), the decision regarding adjuvant chemotherapy might be facilitated by multigene expression tests. all, 142 BCs were investigated using PAM50-based test Prosigna® in a prospective multicentric study. 119/142 cases, molecular subtyping was compared with local and two central (C1 C6) molecular-like subtypes relying on both immunohistochemistry (IHC; HRs, HER2, Ki-67) IHC + tumor grade (IHC+G) subtyping....
The combination of different imaging modalities through the use fusion devices promises significant diagnostic improvement for breast pathology. aim this study was to evaluate image quality and clinical feasibility a prototype device (fusion prototype) constructed from standard tomosynthesis mammography unit 3D ultrasound probe using new method compression.Imaging performed on 5 mastectomy specimens patients with confirmed DCIS or invasive carcinoma (BI-RADS ™ 6). For preclinical an ABVS...
Abstract Background BRCA1/2 deleterious variants account for most of the hereditary breast and ovarian cancer cases. Prediction models guidelines assessment genetic risk rely heavily on criteria with high variability such as family history. Here we investigated efficacy MRI (magnetic resonance imaging) texture features a predictor BRCA mutation status. Methods A total 41 female individuals at risk, sixteen pathogenic variant twenty five controls were included. From each 4225...
Abstract Background Growing demand for risk-reducing surgery in individuals with inherited susceptibility to cancer leads the question whether these procedures are cost effective executing hospitals. This study compared clinical costs bilateral mastectomy (BRRM) and without different types of reconstruction, salpingo-oophorectomy (RRSO), their combinations corresponding reimbursements statutory health-care system Germany. Patients methods Real total care BRRM RRSO, were calculated as sum all...
Even though most breast cancer subtypes can be treated well, some patients still lack a durable treatment response. Especially, the management of triple negative (TNBC) cases is challenging. Human epidermal growth factor receptor 2 (HER2) positive and TNBC are associated with poor prognosis if neoadjuvant chemotherapy (NACT) does not result in pathological complete response (pCR). In this context, tumor-infiltrating lymphocytes (TILs) known for their predictive value regard to pCR. High...
Durch neue Erkenntnisse in der bildgebenden und histologisch-genetischen Diagnostik Früherkennung des Mammakarzinoms können Untersuchungen risikoadaptierter Behandlungen tumorspezifischer durchgeführt werden. Hierdurch sollen Brustkrebserkrankungen früheren Stadien erkannt, die Mortalität gesenkt gleichzeitig eine Übertherapie vermieden
Combinations of different imaging techniques in fusion devices appear to be associated with improvements diagnostic assessment.
Zielsetzung: Die alleinige Mammografie der Brust im Screening weißt eine Sensitivität von ca. 60 – 80% auf. Es konnten jedoch Subgruppen identifiziert werden, wie Frauen mit einer hohen mammografischen Dichte, bei denen die als Screeningmaßnahme nur 38 bis 48% hat. Für solche wird momentan Hinzunahme Ultraschalluntersuchung zur diskutiert. Im klinischen Alltag ist komplementäre Mammadiagnostik für alle Patientinnen längst Standard in Routinediagnostik. In dieser Studie wurde Praktikabilität...