A5066748193- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Cancer Risks and Factors
- Cancer-related Molecular Pathways
- Genetic factors in colorectal cancer
- Neuropeptides and Animal Physiology
- Cancer, Stress, Anesthesia, and Immune Response
- Dental Health and Care Utilization
- Advanced Breast Cancer Therapies
- DNA Repair Mechanisms
- Cardiovascular Health and Risk Factors
- Hormonal Regulation and Hypertension
- Hedgehog Signaling Pathway Studies
- Peptidase Inhibition and Analysis
- Genomic variations and chromosomal abnormalities
- Dental Erosion and Treatment
- Chromatin Remodeling and Cancer
- Global Cancer Incidence and Screening
- HER2/EGFR in Cancer Research
- Coronary Interventions and Diagnostics
- Reproductive Biology and Fertility
- PARP inhibition in cancer therapy
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Statistical Methods in Clinical Trials
Klinikum rechts der Isar
2016-2023
Technical University of Munich
2017-2023
München Klinik
2018
Heidelberg University
2017
Abstract The prevalence of germ line mutations in non‐ BRCA 1/2 genes associated with hereditary breast cancer ( BC ) is low, and the role some these predisposition pathogenesis conflicting. In this study, 5589 consecutive index patients negative for pathogenic 2189 female controls were screened eight ATM , CDH 1 CHEK 2 NBN PALB RAD 51C 51D, TP 53 ). All met inclusion criteria German Consortium Hereditary Breast Ovarian Cancer testing. highest mutation was observed gene (2.5%), followed by...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity multiple cancer syndrome genes. Independent data types currently incorporated in the model assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability based on location bioinformatic prediction effect, co-segregation, family history profile, co-occurrence with a pathogenic same gene, breast tumor pathology, case-control information. Research...
Objective To evaluate the influence of soluble fms-like tyrosine kinase 1/placental growth factor ratio in physicians’ decision making pregnant women with signs and symptoms preeclampsia routine clinical practice. Methods A multicenter, prospective, open, non-interventional study enrolled presenting several European perinatal care centers. Before result was known, physicians documented intended procedures using an iPad® application (data locked/time stamped). After available, decisions were...
Women with highly penetrant BRCA mutations have a 55–60 % lifetime risk for breast cancer and 16–59 of developing ovarian cancer. However, penetrance differs interindividually, indicating that environmental behavioral factors may modify this risk. It is well documented the sporadic disease can be modified by changing lifestyle primarily include physical activity, dietary habits, body weight. thus hypothesized modification these also influence incidence progression in mutation carriers. This...
Women with pathogenic BRCA germline mutations have an increased risk for breast and ovarian cancer that seems to be modified by life-style factors. Though, randomized trials investigating the impact of lifestyle interventions on prevention prognosis in carriers are still missing.We implemented a multicenter, prospective controlled trial BRCA1/2 patients, comparing intervention group (IG) control (CG) primary aim prove feasibility. Intervention comprised structured, individualized endurance...
ObjectiveMeasuring the success of molecularly guided therapies is a major challenge in precision oncology trials. A commonly used endpoint an intra-patient progression-free survival (PFS) ratio, defined as PFS interval associated with therapy (PFS2) divided by last prior systemic (PFS1), above 1.3 or, some studies, 1.33 or 1.5.MethodsTo investigate if concept ratios agreement actual response evaluations physicians, we conducted survey among members MASTER (Molecularly Aided Stratification...
KLK9, 10, 11, and 15 may represent potential cancer biomarkers for evaluating ovarian prognosis. In the present study, we selected a homogeneous cohort including 139 patients of advanced high-grade serous (FIGO stage III/IV) assessed mRNA levels in tumor tissue by quantitative PCR. No significant associations with established clinical parameters (residual mass, ascitic fluid volume) were found. Pronounced correlations between KLK10/KLK11 (rs = 0.647) KLK9/KLK15 0.716) mRNA, but not other...
Women with highly penetrant BRCA mutations have a 55–60% lifetime risk for breast cancer and 16–59% ovarian cancer. However, penetrance differs interindividually, indicating that environmental behavioral factors may modify this risk. These include lifestyle such as physical activity status, dietary habits, body weight. The modification of by changing has not thus far been investigated in randomized trial mutation carriers. Therefore, we intend to enroll 60 BRCA1/2 carriers pilot feasibility...
Background Li‐Fraumeni syndrome (LFS) is a high‐risk cancer predisposition caused by pathogenic germline variants of TP53 . Cancer surveillance has noted significant survival advantage in individuals with LFS; however, little known about the feasibility, acceptance, and psychosocial effects such program. Methods Pathogenic variant carriers completed 7‐part questionnaire evaluating sociodemographics, history, participation, reasons for nonadherence, worries, distress adapted from Worry Scale....
Introduction: International guidelines recommend genetic testing for women with familial breast cancer at an expected prevalence of pathogenic germline variants (PVs) least 10%. In a study sample the German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC), we have previously shown that TNBC diagnosed before age 50 years but without family history or ovarian (sTNBC) meet this criterion. The present investigates PV in BRCA1, BRCA2, nine additional predisposition genes extended sTNBC...
Aim: We assessed the suitability of a biomarker panel to improve early detection and individual risk assessment in breast cancer (BC) patients. Materials & methods: PENK, pro-SP, hGH CA15-3 204 BC patients 68 healthy controls were measured. Results: PENK human growth hormone concentrations significantly lower pro-SP values higher compared with controls. C-index increased from 0.628 for alone 0.754 when all three biomarkers added model. Conclusion: This may influence imaging. It might be...
Abstract Background Women with Li‐Fraumeni syndrome (LFS) have elevated breast cancer (BC) risk. Optimal BC treatment strategies in this population are yet unknown. Methods subtypes and were retrospectively investigated between December 2016 January 2019 a multicentre study. risks evaluated according to the type of surgery. Results Thirty‐five women our study (35/44; 79.5%) had developed 36 lesions at first diagnosis mean age 34 years. Those comprised 32 invasive BCs (89%), three ductal...
Abstract Objective To evaluate changes in tooth color for 2 age cohorts (younger cohort, YC: 1950‐1952; older OC: 1930‐1932) over a mean observation period of 8 years. Material and Methods Sixty‐one participants with 106 upper central incisors were subjected to baseline follow‐up examinations (YC: n = 46/OC: 15). International Commission on Illumination coordinates 1 or unrestored test teeth each participant recorded by use spectrophotometer (VITA Easyshade 1) during both measurement times....
Abstract Purpose TP53germline (g) mutations, associated with the Li-Fraumeni syndrome (LFS), have rarely been reported in context of hereditary breast and ovarian cancer (HBOC). The prevalence risks this target group are unknown counseling remains challenging. Notably an extensive high-risk surveillance program is implemented, which evokes substantial psychological discomfort. Emphasizing lack consensus about clinical implications, we aim to further characterize TP53g mutations HBOC...
Background: The Mediterranean diet (MD) is an anti-inflammatory linked to improved health-related quality of life (HRQoL). Germline (g)BRCA1/2 mutation carriers have increased risk developing breast cancer and are often exposed severe treatments, thus the improvement HRQoL important. Little known about associations between dietary intake in this population. Methods: We included 312 gBRCA1/2 from ongoing prospective randomized controlled lifestyle intervention trial. Baseline data EPIC food...
To assess the extent of differences between oral health people aged 50 and 70 years in a community-based setting.
Abstract Background Germline BRCA1/2 mutation carriers (gBMC) face increased cancer risks that are modulated via non-genetic lifestyle factors whose underlying molecular mechanisms unknown. The peptides Neurotensin (NT) and Enkephalin (ENK)—involved in tumorigenesis obesity-related diseases—are of interest. We wanted to know whether these biomarkers differ between gBMC women from the general population what effect a 1-year lifestyle-intervention has gBMC. Methods stable precursor fragments...
Background Cardiovascular disease (CVD) is an important cause of morbidity and mortality in breast cancer survivors. Effective screening modalities to identify CVD risk are lacking this population. Adrenomedullin (ADM) has been suggested as a biomarker for subclinical cardiac dysfunction the general Levels ADM have proven be responsive lifestyle changes that lead improved cardiovascular health. As BRCA1/2 mutation carriers deemed at increased CVD, aim study was examine plasma levels cohort...
Physical activity (PA) helps prevention and aftercare of sporadic breast cancer (BC), cardiopulmonary fitness (CPF) being an age-independent predictor tumor-specific mortality. Therefore, we wanted to identify predictors CPF (represented by peak oxygen uptake: VO2peak) in BRCA1/2 mutation carriers whose risk developing BC is high. We used cross-sectional data from 68 germline carrying women participating the randomized, prospective, controlled clinical study LIBRE-1. Assessments included...