Research Areas
  • Hereditary Cancer
  • Hereditary breast-ovarian cancer (genes BRCA1, BRCA2, PALB2, ATM, CHEK2, RAD51C, RAD51D etc.)
  • Lynch Syndrome (genes: MLH1, MSH2, MSH6 & PMS2)
  • Familial Adenomatous Polyposis (FAP, gene: APC)
  • MUTYH gene-associated polyposis (MAP)
  • Peutz-Jeghers Syndrome (PJS, gene: STK11)
  • Li-Fraumeni Syndrome (gene: TP53)
  • Cowden Syndrome (gene: PTEN)
  • Diffuse Gastric Cancer Syndrome (HDGC, gene: CDH1)
  • Von-Hippel Lindau Syndrome (gene: VHL)
  • Multiple Endocrine Neoplasms type I & II (genes: MEN1 & RET)
  • Others cancer predisposition forms

Human Molecular Genetics Laboratory

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The Laboratory of Molecular Diagnostics (MDL) was established in 1997 and is active in research in the field of Human Genetics and especially in the study of hereditary cancer predisposition syndromes. All types of cancer that occur in families with a history of cancer at a young age but also in individual patients with a severe personal history of cancer are studied at both research and diagnostic level. This approach consists of studying the genetic material (DNA) of patients who have an individual or family history of different types of cancer through the analysis of specific genes associated with cancer predisposition.

MDL collaborates with the majority of oncology clinics in Greece and with leading international cancer research centers. To date, many founder mutations in the Greek population in the BRCA1 & BRCA2 genes but also in the PALB2, CHEK2, RAD51C, MSH2, MLH1, etc. genes have been characterized in MD, while the spectrum of mutations of many of the DNA repair genes in the Greek population has been characterized in details.

MDL has been running a massive parallel sequencing platform since 2014 that includes a MiSeq-Illumina genetic analyzer, a fragment analyzer (AATI) for quantifying DNA, RNA and genomic libraries for NGS analysis, and complete equipment and staff for Bioinformatics analysis.

MDL has the ability to simultaneously analyze multiple predisposition genes in a large number of patients. To date, the genetic material of more than 5,000 patients has been analyzed by massive parallel sequencing at the EMD or in collaboration with research centers abroad, which has led to the identification of new genes and alleles predisposed to different types of cancer.

MDL has created the largest genetic database in Greece and one of the largest in Europe which contains more than 20,000 samples from patients with breast, ovarian, colorectal, pancreatic, stomach and other cancers. All DNA samples are accompanied by appropriate clinical data and family history information in the form of family trees. More than 2,000 control samples useful for new gene characterization studies have also been collected.

MDL members participate in the following international consortia through which new cancer-related genes and genetic loci have been identified and studied.

In addition, MDL operates for more than 20 years a fully equipped laboratory of Molecular Biology – Genetics that includes sequence analysis according to Sanger (genetic analyzer ABI 3130XL), many state-of-the-art thermocyclers, Real-Time PCR, suitable devices for isolation, quantification and DNA and RNA analysis , electrophoresis devices, Nano-Drop photometer, Quantus Fluorometer and a large number of refrigerators for storing samples. The laboratory is also equipped with significant computing power and in-house server through which data storage and analysis is performed.

Following are some links with presentations of laboratory members

Media Gallery of Human Molecular Genetics Laboratory



Hereditary Cancer Genetic Analysis

The following syndromes are analyzed: Hereditary breast-ovarian cancer (genes BRCA1, BRCA2, PALB2, ATM, CHEK2, RAD51C, RAD51D etc.), Lynch Syndrome (genes: MLH1, MSH2, MSH6 & PMS2) Fami...

Latest Grants

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Breast cancer is a very common disease with 6,000 new cases estimated every year in Greece, and 420,000 new cases in Europe  (mortality 130,000/year), while ovarian cancer respective figures are 1,000...
Initially, a detailed family tree of at least three generations and all cases of cancer and other diseases are recorded. The patient genetic material is then analyzed to identify the gene (s) and muta...
Worldwide, high grade ovarian epithelial cancer (HGOC) remains the most fatal gynecological cancer. In patients with HGOC, the presence of intratumoral genetic heterogeneity is considered an important...
ATTICA MEDICAL PRECISION UNIT 2 Coordinator: National Research Center for Natural Sciences "Demokritos" Partners: National Research Foundation, Alexander Fleming Biomedical Research Center Wi...
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Proud to Collaborate with

Consortium of Investigators of Modifiers of BRCA1 and BRCA2 – CIMBA
Breast Cancer Association Consortium – BCAC
Evidence-based Network for the Interpretation of Germline Mutant Alleles – ENIGMA
Ovarian Cancer Association Consortium – OCAC
PALB2 Interest Group
Triple Negative Breast Cancer Consortium- TNBCC
Hellenic Cooperative Oncology Group (HECOG)
Panhellenic Association of Women with Breast Cancer «Alma Zois»
VHL patients association
95, Rare Alliance Greece
Greek Alliance for Rare Diseases
G. Fountzilas, Medical School, AUTH
D. Skarlos, C. Christodoulou, N Samantas, V. Barbounis, S. Droufakou (Metropolitan Hospital)
I. Boukovinas, (Theageneio/BiioClinic), C. Andreadis (Theageneio Hospital)
C. Panopoulos, St Savvas anticancer Hospital/Euroclinic, D. Tryfonopoulos St Savvas
E. Pikoulis, K. Nastos (Attikon Hospital),
MA Demopoulos, K Dimitrakakis, (Alexandra Hospital, NKUA) E. Goga (Laikon Hospital, NTUA)
Jan Traeger-Συνοδινού (Choremion Institute, NTUA).
G. Aravantinos, (Attikon Hospital)
C. Papadimitriou, (NTUA, Iasso Hospital) G. Xepapadakis (Iasso Hospital), S. Karageorgopoulou (Iasso Hospital)
A. Psyrri (Attikon Hospital)
E. athanasiadis, E. Razis (Hygeia Hospital)
I. Tryantafyllidis, Kratikon Hospital Nikaias
Mary-Claire King, University of Washington School of Medicine Seattle
F. Couch, Mayo Clinic
W. Foulkes, Department of Human Genetics, McGill University
D. Goldgar, Department of Medical Informatics, University of Utah, Salt Lake City
J. Benitez, CNIO, Madrid
D. Easton, Cambridge University
D. Stoppa-Lyonnet, Chef du Service de Genetique Oncologique de l’ institut Curie, Paris
J Lubinski, Pomeranian Academy of Medicine, Szczecin
P. Devilee, Univ. of Leiden NL, Breast Cancer Linkage Consortium
The Netherlands
A. Monteiro, Rockefeller University, New York
INRASTES - Official Web Site
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