Research Topics
Genomes and GenesSpecies | Drakoulis YannoukakosSummaryAffiliation: NCSR Demokritos Country: Greece Publications
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Detail Information
Publications
Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected familiesGeorgia Thodi
Molecular Diagnostics Laboratory, I R RP, National Center for Scientific Research Demokritos, Athens, Greece
BMC Cancer 10:544. 2010....
Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patientsFlorentia Fostira
Molecular Diagnostics Laboratory, I R RP, National Center of Scientific Research Demokritos, Athens, Greece
BMC Cancer 10:389. 2010..Additionally, all available published mutations were considered in order to define the APC mutation spectrum in Greece...
Hereditary cancer syndromesFlorentia Fostira
Molecular Diagnostics Laboratory, I RRP, National Centre for Scientific Research Demokritos, Athens, Greece
J BUON 12:S13-22. 2007....
G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical historyTheodore Anagnostopoulos
Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research Demokritos, Aghia Paraskevi, Athens, Greece
Breast Cancer Res Treat 110:377-85. 2008..Considering the large degree of genetic heterogeneity in the Greek population, the identification of a frequent founder mutation greatly facilitates genetic screening...
Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patientsSophia Armaou
Molecular Diagnostics Laboratory, I R RP, National Centre for Scientific Research Demokritos, Athens, Greece
Eur J Cancer 43:443-53. 2007....
Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patientsIrene Konstantopoulou
Molecular Diagnostics Laboratory, I R RP, National Center for Scientific Research Demokritos, Athens, Greece
Breast Cancer Res Treat 107:431-41. 2008..The suggested protocol can impact on the clinical management of breast-ovarian cancer families on a national healthcare system level...
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotypeFlorentia Fostira
Molecular Diagnostics Laboratory, I R RP, National Center for Scientific Research Demokritos, Athens, Greece
Fam Cancer 9:395-400. 2010....
An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancerFlorentia Fostira
Molecular Diagnostics Laboratory, National Centre of Scientific Research Demokritos, I RRP, Athens, Greece
Dis Colon Rectum 53:1197-201. 2010..The aim of this study was to investigate the pathogenicity of the 13-base-pair deletion, c.504 + 19_504 + 31del13, located on intron 6 of the MUTYH gene, which was identified in 2 unrelated Greek patients with MUTYH-associated polyposis...
Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancerIoulia Belogianni
Molecular Biology Research Center HYGEIA Antonis Papayiannia, DTCA HYGEIA, 15123 Maroussi, Athens, Greece
BMC Cancer 4:61. 2004..A multitude of mutations have been described and are found to be scattered throughout these two large genes. We describe analysis of BRCA1 in 25 individuals from 18 families from a Greek cohort...
Culture of primary epithelial adenoma cells from familial adenomatous polyposis patientsFlorentia Fostira
Molecular Diagnostics Lab, I RRP, National Center for Scientific Research Demokritos, Athens, Greece
Anticancer Res 28:843-6. 2008..The goal of this study was the establishment of conditions for the culture of epithelial cells composing an adenomatic structure...
Evaluation of dHPLC in mutation screening of the APC gene in a Greek FAP cohortMarkos Mihalatos
Molecular Biology Research Center HYGEIA, Antonis Papayiannis, Kifissias Ave. and Erythrou Stavrou 4 Str, 15123 Maroussi, Athens, Greece
Anticancer Res 23:2691-5. 2003..All 14 mutations identified by sequencing were also detected using dHPLC. Sequence analysis of a large family confirmed the dHPLC results. CONCLUSION: Using dHPLC we detected all mutations previously identified by sequencing...
A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2ASotirios Bethanis
Department of Endocrinology, Athens Polyclinic, Athens, Greece
Hormones (Athens) 6:152-6. 2007..Furthermore, patients with FMTC and exon 8 mutations should also be screened for pheochromocytoma...
Fully integrated monolithic optoelectronic transducer for real-time protein and DNA detection: the NEMOSLAB approachKonstantinos Misiakos
Institute of Microelectronics, N C S R Demokritos, GR 15310 Aghia Paraskevi, Athens, Attiki, Greece
Biosens Bioelectron 26:1528-35. 2010..The proposed miniaturized sensing device with proper packaging and accompanied by a portable instrument can find wide application as a platform for reliable and cost effective point-of-care diagnosis...
BRCA2 gene mutations in Greek patients with familial breast cancerAthanasios Armakolas
Laboratory of Surgical Research, A Propaedeutic Surgical Clinic, Athens Medical School, Hippokrateion Hospital, Athens, Greece
Hum Mutat 19:81-2. 2002..Our findings suggest that there is a cluster of novel mutations in exons 10 and 11 in Greek patients with familial breast cancer. These mutations appear to have a milder clinical phenotype when compared to the rest of the study group...
