Florentia Fostira
A5005087419- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- DNA Repair Mechanisms
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Genetics, Bioinformatics, and Biomedical Research
- Ovarian cancer diagnosis and treatment
- PARP inhibition in cancer therapy
- Genomics and Chromatin Dynamics
- Male Breast Health Studies
- Metabolism, Diabetes, and Cancer
- Colorectal Cancer Treatments and Studies
- Epigenetics and DNA Methylation
- Breast Cancer Treatment Studies
- Cancer-related Molecular Pathways
- Immunodeficiency and Autoimmune Disorders
- Molecular Biology Techniques and Applications
- RNA modifications and cancer
- Bioinformatics and Genomic Networks
- Cholangiocarcinoma and Gallbladder Cancer Studies
- 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
2014-2022
Pfizer (United Kingdom)
2018
AstraZeneca (Brazil)
2018
Hellenic Cooperative Oncology Group
2016-2018
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%...
Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.
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
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify risks for female carriers mutations. We investigated—for first time to our knowledge—associations common with male BRCA1/ 2 implications prediction. Materials Methods genotyped 1,802 from Consortium Investigators Modifiers by using custom Illumina OncoArray. investigated combined effects established susceptibility on constructing weighted polygenic scores (PRSs) published effect...
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)...
The members of the class II phosphoinositide 3-kinase (PI3K) family can be activated by several stimuli, indicating that these enzymes regulate many intracellular processes. Nevertheless, to date, there has been no definitive identification their <i>in vivo</i> product, mechanism(s) activation, or precise roles. By metabolic labeling, we here identify phosphatidylinositol 3-phosphate as sole product insulin-dependent activation PI3K-C2α, confirming emerging role such a in signaling. We...
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...
Abstract Quantifying the genetic correlation between cancers can provide important insights into mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six types based on a total of 296,215 cases and 301,319 controls European ancestry, here we estimate pair-wise correlations breast, colorectal, head/neck, lung, ovary prostate cancer, 38 other diseases. We observed statistically significant lung head/neck ( r g = 0.57, p 4.6 × 10 −8 ), breast ovarian...
We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with risks BRCA1 and BRCA2 pathogenic variant carriers. Retrospective cohort data on 18,935 12,339 female carriers of European ancestry were available. Three versions a 313 single-nucleotide polymorphism (SNP) BC PRS evaluated based whether they predict overall, estrogen receptor (ER)-negative, ER-positive BC, two overall high-grade serous EOC. Associations...
Abstract Common variants in 94 loci have been associated with breast cancer including 15 genome-wide significant associations ( P <5 × 10 −8 ) oestrogen receptor (ER)-negative and BRCA1 -associated risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 association studies (GWAS) consisting 4,939 cases 14,352 controls, combined 7,333 42,468 controls 15,252 mutation carriers genotyped on the iCOGS array. We four previously unidentified two...
<h3>Background</h3> BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family DNA repair proteins. Biallelic mutations in <i>BRIP1</i> are responsible for FANC J, and previous studies have also suggested that rare truncating variants associated with an increased risk breast cancer. These led to inclusion on targeted sequencing panels cancer prediction. <h3>Methods</h3> We evaluated a variant, p.Arg798Ter (rs137852986), 10...
We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. identified five individuals with MBD4 within four families and these had a personal and/or family history of adenomatous colorectal polyposis, acute myeloid leukemia, uveal melanoma. encodes glycosylase involved G:T mismatches resulting from deamination 5'-methylcytosine. The adenomas MBD4-deficient showed mutator...
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.
In vivo expression of the developmentally regulated Candida albicans hyphal wall protein 1 ( HWP1 ) gene was analysed in human subjects who were culture positive for C. and had oral symptoms n =40) or asymptomatic =29), vaginal =29). mRNA present regardless symptoms, implicating possibly pseudohyphal forms mucosal carriage as well disease. As expected, control without =10) negative samples, not detected. However, exposure to Hwp1 healthy culture-negative controls, candidiasis infections,...
The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic variants have been associated with colorectal polyposis and cancer. pathogenicity of few is beyond doubt, including c.536A>G/p.Tyr179Cys c.1187G>A/p.Gly396Asp (previously c.494A>G/p.Tyr165Cys c.1145G>A/p.Gly382Asp). However, for substantial fraction the detected variants, clinical significance remains uncertain, compromising molecular diagnostics thereby genetic counseling. We established an...
Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study Europeans identified two further variants: rs11249433 1p11.2 rs999737 RAD51L1 14q24.1. Although previously variants shown be associated with risk BRCA1 BRCA2 mutation carriers, involvement of these SNPs carriers is currently unknown. To address this, we genotyped from 42 studies...