Milena Jakimovska
A5101529679- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Breast Cancer Treatment Studies
- Bioinformatics and Genomic Networks
- Genomic variations and chromosomal abnormalities
- Cancer Risks and Factors
- DNA Repair Mechanisms
- Gene expression and cancer classification
- Genetic factors in colorectal cancer
- Genomics and Chromatin Dynamics
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Neonatal Respiratory Health Research
- CRISPR and Genetic Engineering
- Gut microbiota and health
- Neurological Disorders and Treatments
- Machine Learning in Healthcare
- Cancer Genomics and Diagnostics
- Cancer-related molecular mechanisms research
- Cancer-related Molecular Pathways
- Global Cancer Incidence and Screening
- RNA modifications and cancer
- Evolution and Genetic Dynamics
- Colorectal Cancer Screening and Detection
Macedonian Academy of Sciences and Arts
2015-2022
Kent Hastanesi
2022
Acıbadem Adana Hospital
2022
BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe is not well characterized. The unique history cultural practices characterizing these regions, often involving consanguinity inbreeding, plausibly led to accumulation of population-specific founder pathogenic sequence variants (PSVs). To determine recurring BRCA PSVs locales, a search PUBMED, EMBASE, BIC, CIMBA was carried out combined with outreach researchers from relevant countries for unpublished data....
Abstract Background: It is not known whether modifiable lifestyle factors that predict survival after invasive breast cancer differ by subtype. Methods: We analyzed data for 121,435 women diagnosed with from 67 studies in the Breast Cancer Association Consortium 16,890 deaths (8,554 specific) over 10 years. Cox regression was used to estimate associations between risk and 10-year all-cause mortality cancer–specific overall, estrogen receptor (ER) status, intrinsic-like Results: There no...
A large number of variants identified through clinical genetic testing in disease susceptibility genes are uncertain significance (VUS). Following the recommendations American College Medical Genetics and Genomics (ACMG) Association for Molecular Pathology (AMP), frequency case-control datasets (PS4 criterion) can inform their interpretation. We present a novel likelihood ratio-based method that incorporates gene-specific age-related penetrance. demonstrate utility this analysis simulated...
The most prevalent "rare" disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem disease, caused by mutations in the CFTR gene. knowledge of present certain population important for designing a simple, fast and cost-effective genetic testing approach, also better management CF patients, including administration novel targeted therapies. Here, we results 158 unrelated patients from National Registry Republic North Macedonia. Initially, were screened 11 common...
Abstract Background Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants differential associations by estrogen receptor (ER), but how relate with other tumor features and intrinsic molecular subtypes is unclear. Methods Among 106,571 invasive cases 95,762 controls European ancestry data on 173 in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate relation (ER, progesterone...
Recent studies have highlighted that gut microbiota can alter colorectal cancer susceptibility and progression due to its impact on carcinogenesis. This work represents a comprehensive technical approach in modeling interpreting the drug-resistance mechanisms from clinical data for patients diagnosed with cancer. To accomplish our aim, we developed methodology based evaluating high-performance machine learning models where Python-based random forest classifier provides best performance...
BACKGROUND: Alzheimer’s disease (AD), the most common cause of dementia, is evolving to become a threatening epidemy 21st century. Only 21% predicted number AD patients in Macedonia have been diagnosed and treated, which means that almost 80% are underdiagnosed or misdiagnosed. Apolipoprotein E gene (APOE) recognised as strongest genetic risk factor for sporadic AD. Whether when develops, depends on very complex interaction between modifiable factors. It has known vascular factors like...
Clinical importance of the most common CHEK2 (IVS2+1 G>A, 1100delC, I157T and del5395) NBN (R215W 657del5) gene mutations for breast cancer development in Macedonian patients is unknown. We performed a case-control study including 300 283 healthy controls. Genotyping was done using fast highly accurate single-nucleotide primer extension method detection five single reaction. The del5395 an allele-specific duplex polymerase chain reaction (PCR) assay. have found that were more frequent (n =...