Irene Konstantopoulou
A5051932085- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
- Ovarian cancer diagnosis and treatment
- Genomics and Chromatin Dynamics
- Heat shock proteins research
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Cancer-related Molecular Pathways
- Molecular Biology Techniques and Applications
- PARP inhibition in cancer therapy
- RNA modifications and cancer
- Computational Drug Discovery Methods
- Cancer-related molecular mechanisms research
- Physiological and biochemical adaptations
- Insect Resistance and Genetics
- Male Breast Health Studies
- Hearing, Cochlea, Tinnitus, Genetics
- Neuroendocrine Tumor Research Advances
National Centre of Scientific Research "Demokritos"
2015-2024
Czech Academy of Sciences
2023
Czech Academy of Sciences, Institute of Molecular Genetics
2023
National Cancer Centre Singapore
2023
Charles University
2023
General University Hospital in Prague
2023
Institute of Nuclear & Radiological Sciences and Technology, Energy & Safety
2020-2021
Aristotle University of Thessaloniki
1992-2016
University Hospital of Heraklion
2016
Metropolitan Hospital
2016
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%...
PURPOSE To estimate age-specific relative and absolute cancer risks of breast to ovarian, pancreatic, male breast, prostate, colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these have not been extensively characterized. METHODS We analyzed data from 524 families PVs 21 countries. Complex segregation analysis was used (RRs; country-specific population incidences) cancers. The models allowed for residual familial aggregation ovarian were adjusted the...
Germline genetic testing with hereditary cancer gene panels can identify women at increased risk of breast cancer. However, those triple-negative (estrogen receptor–negative, progesterone human epidermal growth factor receptor–negative) (TNBC) cannot be identified because predisposition genes for TNBC, other than BRCA1, have not been established. The aim this study was to define the panel associated TNBC. Multigene 21 in 8753 TNBC patients performed by a clinical laboratory, and 17 2148...
To provide precise age-specific risk estimates of cancers other than female breast and ovarian associated with pathogenic variants (PVs) in
Triple-negative (TN) breast cancer is an aggressive subtype of associated with a unique set epidemiologic and genetic risk factors. We conducted two-stage genome-wide association study TN (stage 1: 1529 cases, 3399 controls; stage 2: 2148 1309 controls) to identify loci that influence risk. Variants in the 19p13.1 PTHLH showed significant associations (P < 5 × 10−8) 1 2 combined. Results also suggested substantial enrichment significantly variants among single nucleotide polymorphisms (SNPs)...
Single Nucleotide Polymorphisms (SNPs) in genes involved the DNA Base Excision Repair (BER) pathway could be associated with cancer risk carriers of mutations high-penetrance susceptibility BRCA1 and BRCA2, given relation synthetic lethality that exists between one components BER pathway, PARP1 (poly ADP ribose polymerase), both BRCA2. In present study, we have performed a comprehensive analysis 18 using tagging SNP approach large series BRCA2 mutation carriers. 144 SNPs were analyzed two...
Abstract Triple-negative breast cancers are an aggressive subtype of cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited risk identified through genome-wide association studies display heterogeneity effect among subtypes as defined by status estrogen progesterone receptors. In Triple Negative Breast Cancer Consortium (TNBCC), 22 common susceptibility variants were investigated in 2,980 Caucasian...
The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early detection risk reduction this population.
Abstract Introduction More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity their associations with different BC subtypes. Although there differences the association patterns between BRCA1 BRCA2 mutation carriers general population for loci, no study has comprehensively evaluated of all susceptibility risk subtypes carriers. Methods We used data from 15,252 8,211 analyze approximately 200,000 genetic variants...
Genetic testing for cancer predisposition leads to the identification of a number variants with uncertain significance. To some extent, BRCA1/2 have been classified, in contrast other genes. CHEK2 is typical example, which large unknown clinical significance were identified and still remained unclassified. Herein, variant assessment was performed through an vivo, yeast-based, functional assay. In total, 120 germline missense variants, distributed along protein sequence, two in-frame...
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....
The identification of susceptibility genes for specific types cancer provided the necessary information complete characterization inherited syndromes. close observation carrier families has significantly enriched our knowledge on distinct phenotypical features, age onset and survival rates each syndrome gave opportunity to further understand molecular basis hereditary cancer. Recent advances in genetics involve novel with moderate risk cause cancer, after synergism particular environmental...
We have screened 473 breast/ovarian cancer patients with family history, aiming to define the prevalence and enrich spectrum of BRCA1 /2 pathogenic mutations occurring in Greek population. An overall mutation 32% was observed. Six recurrent/founder dominate observed (58.5% all found). These include three exon 20 large genomic deletions. Of 44 different deleterious found both genes, 16 are novel reported here for first time. Correlation available histopathology data showed that 80% carriers...
The genes caspase-8 (CASP8) and caspase-10 (CASP10) functionally cooperate play a key role in the initiation of apoptosis. Suppression apoptosis is one major mechanisms underlying origin progression cancer. Previous case-control studies have indicated that polymorphisms CASP8 D302H CASP10 V410I are associated with reduced risk breast cancer general population.To evaluate whether (CASP10 V410I) modify or ovarian BRCA1 BRCA2 mutation carriers, we analyzed 7,353 (7,227) subjects white European...
Abstract Introduction Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. are involved DNA double-strand break repair, alterations that can be caused by exposure to reactive oxygen species, main source which mitochondria. Mitochondrial genome variations affect electron transport chain efficiency species production. with different mitochondrial haplogroups differ their metabolism sensitivity oxidative stress. Variability genetic...
Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% 50%. A variable incidence has been reported for these cancer cases different populations. In Greece, six account 63% all detected both genes. This study aimed determine prevalence a Greek cohort 106 familial patients that had strong family history or metachronous breast 592 sporadic cases. All 698 were screened recurrent (including...
Summary Objective Familial medullary thyroid carcinoma (FMTC) is caused by germ‐line mutations in the RET proto‐oncogene. These concern mainly cysteine residues exons 10 and 11, whereas noncysteine 13–16 are rare. Mutations other have been reported only isolated families. In this study we analysed gene two FMTC families negative for above exons. Design We 7–19 21 one index patient from each family using DNA sequencing. Patients Twenty‐eight subjects both were clinically assessed subsequently...