A5019902697- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Global Cancer Incidence and Screening
- Nutrition, Genetics, and Disease
- Ovarian cancer diagnosis and treatment
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Male Breast Health Studies
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Cancer Risks and Factors
- AI in cancer detection
- Radiomics and Machine Learning in Medical Imaging
- PARP inhibition in cancer therapy
- Digestive system and related health
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Colorectal Cancer Screening and Detection
- Advances in Oncology and Radiotherapy
- Neuroendocrine Tumor Research Advances
- Advanced X-ray and CT Imaging
- Gastric Cancer Management and Outcomes
- Colorectal Cancer Treatments and Studies
Institute of Oncology Ljubljana
2016-2025
University of Ljubljana
2020-2025
University of Primorska
2020-2025
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2020
Cancer Clinic
2013
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk breast, thyroid, renal cancer, and possibly endometrial colorectal cancer melanoma. There no international consensus on surveillance in PHTS all current guidelines are based expert opinion. A comprehensive literature review was undertaken were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology,...
ABSTRACT Aim To evaluate Slovenian adolescents’ awareness of common cancer risk and protective factors, identifying knowledge gaps to develop targeted health education initiatives. Methods A cross-sectional questionnaire survey was conducted among 795 students aged 13 19 years in primary secondary schools Slovenia. The responses were analysed using descriptive analytical statistics. relationship between educational level, age gender selected factors performing univariate multivariate...
Abstract Objective:
State-of-the-art Breast Cancer Risk (BCR) prediction models have been originally trained on mammograms with pectoral muscle (PM) included. This study investigated whether excluding PM during training/fine-tuning improves the model's BCR discrimination performance, calibration, and robustness.

Approach:
First, Original deep learning model (MIRAI), US (Massachusetts General Hospital) data, was validated, relative contribution of to...
Abstract Background The Department of Clinical Cancer Genetics at the Institute Oncology Ljubljana offers genetic counselling and testing to cancer patients their relatives. Before undergoing testing, sign informed consent form. In addition giving for collection biological material decide about storage participation in international databases. Furthermore, whether information regarding test results may be revealed blood relatives they want secondary findings. Methods Using signed forms, we...
Abstract Objective: When it comes to the implementation of Deep-Learning (DL) based Breast Cancer Risk (BCR) prediction models in clinical settings, is important be aware that these could sensitive various factors, especially those arising from acquisition process. In this work, we investigated how state-of-the-art BCR model realistic image alterations can occur as a result different positioning during process.

Approach: 5076 mammograms (1269 exams, 650 participants)...
Abstract Background The BRCA1 and BRCA2 mutation spectrum detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian cancer. Methods genes screened using DGGE, PTT, HRM, MLPA direct sequencing. Results Eighteen mutations found 13 gene. Mutations one or other gene 96 families. the highest at least - 42% for 8% . rate observed two cancers disease onset before age of 50 years no was 23% 13%...
High-grade serous ovarian cancer is a detrimental disease. Treatment options in patients with recurrent disease are dependent on BRCA1/2 mutation status since only known BRCA eligible for treatment poly(ADP-ribose) polymerase inhibitors (PARPi). The aim of this study was to compare concordance analyses from cytological samples (CS) histological formalin fixed paraffin embedded (FFPE) samples. Mutation analysis BRCA1 and BRCA2 genes performed 44 women diagnosed primary or high-grade three...
Both recurrent and population specific mutations have been found in different areas of the world more specifically ethnically defined or isolated populations. The Slovenia has over several centuries undergone limited mixing with surrounding current study was aimed at establishing mutation spectrum BRCA1/2 Slovenian breast/ovarian cancer families taking advantage a complete registration database. A second objective to determine phenotype these families. original database composed patients...
Abstract Background Somatic and germline genetic alterations are significant drivers of cancer. Increasing integration new technologies which profile these requires timely, equitable high-quality counselling to facilitate accurate diagnoses informed decision-making by patients their families in preventive clinical settings. This article aims provide an overview legislation practice across European Union (EU) Member States serve as a foundation for future recommendations action. Methods...
In patients with platinum-sensitive relapsed ovarian cancer (PSROC) harboring pathogenic/likely pathogenic variants (PV) in BRCA1 and BRCA2 genes, olaparib maintenance monotherapy (OMT) is a viable option. Our study aimed to evaluate the impact of different BRCA1/2 PV survival outcomes safety OMT BRCA1/2-mutated PSROC patients, focusing on type location PV.
The estimated proportion of hereditary breast and ovarian cancers among all cancer cases is 5-10%. According to the literature, inherited mutations in BRCA1 BRCA2 tumour-suppressor genes, account for majority cases. aim this report present novel that have not yet been described literature pathogenic which detected HBOC families first time last three years. In period between January 2009 December 2011, 559 individuals from 379 affected with and/or were screened genes. Three detected: one -...
The etiology of male breast cancer (MBC) is poorly understood. In particular, the extent to which genetic basis MBC differs from female (FBC) unknown. A previous genome-wide association study identified 2 predisposition loci for disease, both were also associated with risk FBC.
Detection of germline and somatic pathogenic/likely pathogenic variants (PV/LPV) in BRCA genes is at the moment a prerequisite for use PARP inhibitors different treatment settings tumors. The aim our study was to determine most appropriate testing workflow epithelial ovarian cancer (EOC) patients using tumor genotyping other hereditary breast and/or (HBOC) susceptibility genes. Consecutive with advanced non-mucinous EOC, who responded platinum-based chemotherapy, were included study. DNA...
Knowledge of the geographical distribution highly recurrent mutations may be useful for efficient screening in cancer families. Since cloning BRCA1/2 genes, it is known that wide spectrum deleterious shows high ethnic and geographic heterogeneity. In this study, we have tested probands from 582 breast/ovarian families positioned all 156 on map according to family origin. We observed high-risk with same mutation present a typical different show patterns. then evaluated genetic implications...
The diagnostics of Lynch syndrome (LS) is focused on the detection DNA mismatch repair (MMR) system deficiency. MMR deficiency can be detected tumor tissue by microsatellite instability (MSI) using molecular genetic test or loss expression one four proteins (MLH1, MSH2, MSH6, and PMS2) involved in immunohistochemistry (IHC) staining. According to National Comprehensive Cancer Network (NCCN) guidelines, definitive diagnosis LS requires identification germline pathogenic variant genes. In...
Male breast cancer (MBC) is a rare disease, comprising less than 1% of patients in Slovenia. Some inherited cases are due to the mutations BRCA1 or BRCA2 genes. There no information available about frequency BRCA gene Slovenian MBC population. The purpose this study was characterize germline patients. Forty-one who were diagnosed with at Institute Oncology Ljubljana between 1970 and 2006 proposed take part study. Of them, 27 agreed follow genetic counseling session 25 provide blood sample...