Arif B. Ekici
- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Ovarian cancer diagnosis and treatment
- Cancer-related molecular mechanisms research
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Estrogen and related hormone effects
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Endometrial and Cervical Cancer Treatments
- Nutrition, Genetics, and Disease
- Genomics and Chromatin Dynamics
- Immune Cell Function and Interaction
- Genetics and Neurodevelopmental Disorders
- Bioinformatics and Genomic Networks
- MicroRNA in disease regulation
- Cytokine Signaling Pathways and Interactions
- Reproductive System and Pregnancy
- Chronic Kidney Disease and Diabetes
- Renal Diseases and Glomerulopathies
- Genomics and Rare Diseases
- IL-33, ST2, and ILC Pathways
- Cancer Risks and Factors
Friedrich-Alexander-Universität Erlangen-Nürnberg
2016-2025
Comprehensive Cancer Center Erlangen
2014-2024
Universitätsklinikum Erlangen
2015-2024
Bayer (Germany)
2021-2023
University of Regensburg
2010-2023
Innsbruck Medical University
2014-2023
Charité - Universitätsmedizin Berlin
2021-2023
RWTH Aachen University
2023
Medizinische Hochschule Hannover
2023
Jena University Hospital
2023
Stratification of women according to their risk breast cancer based on polygenic scores (PRSs) could improve screening and prevention strategies. Our aim was develop PRSs, optimized for prediction estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset empirically validate PRSs in prospective studies. The development comprised 94,075 case subjects 75,017 control European ancestry 69 studies, divided into training validation sets. Samples were...
Background Defective cellular transport processes can lead to aberrant accumulation of trace elements, iron, small molecules and hormones in the cell, which turn may promote formation reactive oxygen species, promoting DNA damage expression key regulatory cancer genes. As uncontrolled proliferation are hallmarks cancer, including epithelial ovarian (EOC), we hypothesized that inherited variation genes contributes EOC risk. Methods In total, samples were obtained from 14,525 case subjects...
Genetic testing for breast cancer susceptibility is widely used, but many genes, evidence of an association with weak, underlying risk estimates are imprecise, and reliable subtype-specific lacking.
Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or the miRNA binding sites may affect dependent gene expression regulation, which has been implicated various cancers, including breast cancer, and alter individual susceptibility to cancer. We investigated associations between related SNPs cancer risk. First we evaluated 2,196 a case-control study combining nine genome wide association studies (GWAS). Second, further 42 with suggestive evidence for using...
Purpose Recent advances in DNA sequencing have led to the development of breast cancer susceptibility gene panels for germline genetic testing patients. We assessed frequency mutations 17 predisposition genes, including BRCA1 and BRCA2, a large cohort patients with triple-negative (TNBC) unselected family history or ovarian determine utility those TNBC. Patients Methods TNBC (N = 1,824) were recruited through 12 studies, was sequenced identify mutations. Results Deleterious identified 14.6%...
Data for multiple common susceptibility alleles breast cancer may be combined to identify women at different levels of risk. Such stratification could guide preventive and screening strategies. However, empirical evidence genetic risk is lacking. We investigated the value using 77 cancer-associated single nucleotide polymorphisms (SNPs) stratification, in a study 33 673 cases 381 control European origin. tested all possible pair-wise multiplicative interactions constructed 77-SNP polygenic...
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes
Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) 25 patients. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to 3-month-old baby, but are near-normal...
Endometrial cancer is the most commonly diagnosed of female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, present an expanded meta-analysis 12,906 cases and 108,979 controls (including new genotype data 5624 cases) identify nine novel significant loci, including a locus on 12q24.12 by meta-GWAS colorectal At five expression quantitative trait (eQTL) analyses candidate...