Search Results - "Agiannitopoulos, Konstantinos"
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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations
Published in BMC cancer (03-06-2019)“…Hereditary cancer predisposition syndromes are responsible for approximately 5-10% of all diagnosed cancer cases. In the past, single-gene analysis of specific…”
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miRNA polymorphisms and risk of premature coronary artery disease
Published in Hellenic journal of cardiology (01-07-2021)“…Several microRNA (miRNA) polymorphisms have been associated with susceptibility to specific health disorders, including cardiovascular diseases. The aim of the…”
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Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report
Published in BMC medical genetics (26-07-2019)“…CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. An increased risk for breast and other cancers has been documented in…”
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Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation
Published in Diagnostics (Basel) (01-08-2024)“…Breast cancer (BC) is the most prominent tumor type among women, accounting for 32% of newly diagnosed cancer cases. BC risk factors include inherited germline…”
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Report of a germline double heterozygote in MSH2 and PALB2
Published in Molecular genetics & genomic medicine (01-10-2020)“…Background Carriers with pathogenic variants in MSH2 have increased risk to develop colorectal, endometrium, ovarian, and other types of cancer. The PALB2 is…”
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Determination of EGFR and KRAS mutational status in Greek non-small-cell lung cancer patients
Published in Oncology letters (01-10-2015)“…It has been reported that certain patients with non-small-cell lung cancer (NSCLC) that harbor activating somatic mutations within the tyrosine kinase domain…”
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Molecular predictive markers in tumors of the gastrointestinal tract
Published in World journal of gastrointestinal oncology (15-11-2016)“…Gastrointestinal malignancies are among the leading causes of cancer-related deaths worldwide. Like all human malignancies they are characterized by…”
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Neuroendocrine Breast Tumors: Could Multigene Assays Help in Guiding Treatment Decisions? Case Presentation
Published in In vivo (Athens) (01-05-2024)“…Breast cancer remains the most prevalent type of cancer among women worldwide, and it remains the primary cause of cancer-related deaths in this demographic…”
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CLINICAL CHARACTERIZATION AND MUTATION SPECTRUM IN CRETAN PATIENTS WITH HEREDITARY POLYPOSIS SYNDROMES
Published in Gastrointestinal endoscopy (01-06-2022)Get full text
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Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia
Published in Advances in experimental medicine and biology (2023)“…Ectodermal dysplasias are a group of >200 clinically and congenitally heterogeneous disorders characterized by abnormal development in the ectodermal…”
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Reclassification of Splicing Gene Variants in Hereditary Cancer: Cases Report and Literature Review
Published in In vivo (Athens) (01-07-2023)“…Alternative splicing (AS), a crucial cellular process, is a source of transcriptomic expansion and protein variability. Its contribution to cancer development…”
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A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia
Published in Archives of oral biology (01-06-2023)“…Identify the disease-causing mutation in a patient with features of X-linked hypohidrotic ectodermal dysplasia, which is a genetic disorder characterized by…”
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Abstract P5-12-07: Polygenic Risk Score in a cohort of 105 Breast Cancer patients previously tested with a multi gene panel for hereditary cancer
Published in Cancer research (Chicago, Ill.) (01-03-2023)“…Abstract AIM: Most patients tested by a 44-gene panel for hereditary cancer (HerediGene), even though they had a strong family history, have a negative result…”
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Genetic testing in patients with pancreatic cancer to reveal pathogenic variants in cancer susceptibility genes
Published in Journal of clinical oncology (01-06-2023)“…e16276 Background: Pancreatic cancer is one of the most fatal malignancies. It accounts for 2% of all cancers and 5% of cancer-related deaths. Hence, it is…”
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Expression of miR-208b and miR-499 in Greek Patients with Acute Myocardial Infarction
Published in In vivo (Athens) (01-03-2018)“…Certain microRNAs (miRs) present in human plasma are candidate biomarkers for cardiovascular diseases, including acute myocardial infarction (AMI). We examined…”
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Germline Co-deletion of CDKN2A and CDKN2B Genes in Pleomorphic Xanthoastrocytoma: Case Report
Published in In vivo (Athens) (01-07-2024)“…Gliomas are highly heterogeneous malignancies originating from diverse cell types within the brain. Although their precise etiology is frequently unknown, risk…”
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Study on the admission levels of circulating cell-free DNA in patients with acute myocardial infarction using different quantification methods
Published in Scandinavian journal of clinical and laboratory investigation (01-07-2020)“…Circulating cell-free DNA (cf-DNA) is present in human biological fluids, mainly in plasma and serum, originating from cell death, a process that massively…”
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Abstract P2-09-10: Different CNVs account for 10.4% of pathogenic variants in 1418 patients referred for hereditary breast cancer testing
Published in Cancer research (Chicago, Ill.) (15-02-2022)“…Abstract Background: Breast cancer is the most frequently diagnosed cancer in women and about 10% of breast cancer cases are hereditary. BRCA1 and BRCA2 are…”
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Evidence for association of the rs605059 polymorphism of HSD17B1 gene with recurrent spontaneous abortions
Published in The journal of maternal-fetal & neonatal medicine (12-12-2015)“…Objective: To investigate whether the missense rs605059 polymorphism of HSD17B1 gene, which is expressed mainly in the placenta, is associated with recurrent…”
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Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing
Published in Cancer genomics & proteomics (01-09-2023)“…Background/Aim: Germline copy number variation (CNV) is a type of genetic variant that predisposes significantly to inherited cancers. Today, next-generation…”
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