Human Molecular Genetics Laboratory

The Human Molecular Genetics Laboratory (HMGL) 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.

HMGL 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.

HMGL 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.

HMGL 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 HMGL or in collaboration with research centers abroad, which has led to the identification of new genes and alleles predisposed to different types of cancer.

HMGL 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.

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

• 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

In addition, HMGL 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

• Is it possible to cure cancer? – Dr Koulis Yannoukakos (in Greek)
• New therapies in cancer based on the genetic background of patients – Dr Koulis Yannoukakos (in Greek)
• Cancer Genetics – Dr Koulis Yannoukakos (in Greek)
• The importance of genetic testing for breast cancer in Greek – Dr Koulis Yannoukakos (in Greek)
• The CoViD-19 Pandemic and our lives – Dr Koulis Yannoukakos (in Greek)
• Hereditary Breast Cancer, Angelina Jolie, MEGA Channel – Dr Koulis Yannoukakos (in Greek)
• Heredity and Cancer – Unlocking the genetic predisposition to breast cancer – Dr Reena Konstantopoulou (in Greek)
• Homologous Recombination DNA Repair Deficiency – Dr Reena Konstantopoulou (in Greek)
• Genetic Testing in Ovarian Cancer – Dr Reena Konstantopoulou (in Greek)
• Genetic testing, when it is necessary – Dr Reena Konstantopoulou (in Greek)
• Homologous Recombination Deficiency, targeting personalized therapy in patients with ovarian cancer – Dr Florentia Fostira (in Greek)
• Reading the genes and studying hereditary cancer – Dr Florentia Fostira (in Greek)
• Ηeredity and Biomarkers genes – Dr Florentia Fostira (in Greek)
• Dr Florentia Fostira (in Greek)
• Genetic mutations in the Mediterranean: What are the therapeutic impacts – Dr Florentia Fostira (in Greek)
• Genes signatures – Dr Florentia Fostira (in Greek)
• The role of heredity in breast cancer prevention – Dr Florentia Fostira (in Greek)

♦   ACCREDITATION & QUALITY

The Human Molecular Genetics Laboratory (HMGL) of the National Centre for Scientific Research (NCSR) “Demokritos” operates a Quality Management System in accordance with the requirements of EN ISO 15189, ensuring the provision of reliable, valid, and scientifically supported laboratory diagnostic services.

The laboratory operates in accordance with the principles of quality, technical competence, impartiality, confidentiality, and continual improvement, ensuring the reliability of test results and the high quality of the services it provides.

The laboratory is accredited by the Hellenic Accreditation System (ESYD) in accordance with EN ISO 15189 for specific medical examinations included in its current Scope of Accreditation.

• 📄 Accreditation Certificate
• 📄 Scope of Accreditation

♦   COMPLAINT MANAGEMENT

At the Human Molecular Genetics Laboratory (HMGL) of the National Centre for Scientific Research (NCSR) “Demokritos”, the quality of our services and the satisfaction of our patients are our highest priorities. Your feedback, comments, and complaints are highly valued and play an important role in the continual improvement of our services.

If you wish to submit a complaint or report an incident related to our services, you may contact us using the details below:

📞 Telephone: +30 210 650-3841, +30 210 650-3823

✉️ Email: dnalab1997@gmail.com
Attention: Dr. E. Konstantopoulou, Clinical Laboratory Geneticist, PhD, ErCLG, Research Director

When contacting us, please provide, where possible:

• your full name,
• the date of the incident or laboratory examination,
• a brief description of your concern.

All complaints are formally documented, reviewed by the Quality Manager, and investigated objectively, impartially, and confidentially in accordance with the laboratory’s Quality Management System and the requirements of EN ISO 15189.

The investigation of each complaint begins promptly upon receipt. We aim to complete the investigation and provide you with a response within 3–4 working days. If additional time is required due to the complexity of the case, you will be informed accordingly. Whenever appropriate, corrective and/or preventive actions are implemented to ensure the continual improvement of our services.

Confidentiality Notice: All complaints are handled with the utmost confidentiality and are maintained as documented records within the laboratory’s Quality Management System, in accordance with the requirements of EN ISO 15189 and the applicable General Data Protection Regulation (GDPR).