2008 Barcelona - European Society of Human Genetics

Cancer genetics
P04.131
Familial cancer Database (FacD) online
R. H. Sijmons;
University Medical Center Groningen, Groningen, The Netherlands.
Cancer is associated with a wide range of hereditary disorders . Recognising
these disorders in cancer patients is important for the medical
management of both patients and their relatives . The Familial Cancer
Database (FaCD) - online is a web-based application aimed at healthcare
professionals with at least basic knowledge of clinical cancer
genetics . It has been developed to support the clinical genetic differential
diagnosis in cancer patients and families . FaCD tries to match
the tumour and non-tumour features observed in a particular patient
and family with those of the disorders included in its database and
provides a clinical synopsis with literature references for each of these
disorders . In addition to reported familial clustering of cancer (e.g. familial
cases of cervical cancer) and known cancer-associated hereditary
disorders (e.g . Lynch syndrome), the database includes patterns
of multiple primary tumours and data on the tumours associated with
common multifactorial disorders (e.g. diabetes) or exogenic risk factors
(e.g. use of OAC). In total, FaCD contains files on more than 400
different disorders . Users can choose from over 900 clinical tumour
and non-tumour features to compose a search profile. Links are provided
to corresponding OMIM entries, PubMed abstracts and websites
of research and support groups . The database can be found at www .
facd .info and access is granted free of charge .
P04.132
Quantification of CEA mRNA for micrometastases detection in
peripheral blood and bone marrow specimens of gastric cancer
patients by Real-time PcR
L. Dardaei Alghalandis 1,2 , R. Shahsavani 2 , S. H. Ghaffari 2 , E. Aslankoohi 3 , K.
Alimoghadam 2 , A. Ghavamzadeh 2 ;
1 Tarbiar Modares University, Tehran, Islamic Republic of Iran,
2 Hematology,Oncology & BMT resaerch center,Shariati Hospital, Tehran, Islamic
Republic of Iran, 3 Khatam University, Tehran, Islamic Republic of Iran.
Introduction: Gastric adenocarcinoma is the first leading fatal malignancy
in Iran . Despite advances in therapeutics approaches for gastric
cancer (GC), tumor dissemination to distant organs is still the major
cause of death . CEA that is a tumor antigen is abundantly expressed
by malignant cells . The aim of our research was to use CEA for detection
of micrometastases in peripheral blood (PB) and bone marrow
(BM) specimens of patients with GC .
Materials and Methods: we used CEA as a tumor marker and GAPDH
as an internal control to detect and quantify disseminated tumor cells
in PB and BM specimens of affected individuals . Total RNA was extracted
from AGS cell line and CEA and GAPDH fragments were generated
by reverse transcription. The amplified fragments were cloned
into T/A vector . Double cloning of these fragments has been done into
T/A vector . Serial dilutions of this plasmid are used as standard curve,
each containing a known amount of input copy number . Total RNA was
extracted from PB and BM specimens of about 30 patients . cDNA of
these specimens were synthesized by reverse transcription .
Results:We set up quantitative Real-Time PCR for CEA and GAPDH .
The assay determined the copy number of disseminated tumor cells in
the PB and BM specimens of patients .
Conclusion: The quantitative real-time PCR for the CEA can be a useful
technique for detection of micrometastases in the PB and BM specimens
of GC patients
P04.133
DNA methylation οf human telomerase reverse transcriptase
(htERt) gene in premalignant cervical lesions
P. Oikonomou1 , A. Tsezou1,2 ;
1 2 University of Thessaly, Larissa, Greece, Institute of Biomedical Research and
Technology, Larissa, Greece.
Human Telomerase Reverse Transcriptase (hTERT) mRNA expression
seems to play an important role in cervical carcinogenesis . Analysis of
the hTERT promoter region revealed the presence of a CpG island and
a high overall GC content, suggesting a possible role for methylation
in the regulation of hTERT gene expression . In the present study we
evaluated the role of hTERT promoter methylation in hTERT regulation
in premalignant cervical specimens . The methylation status of hTERT
promoter gene, hTERT mRNA quantification and telomerase activity
were investigated in 26 normal and 64 specimens of abnormal cytology
using the Methylight technique, the Telo TAGGG hTERT Quantification
kit and LightCycler technology as well as Telomeric Repeat
Amplification Protocol (TRAP). E6/E7 HPV-16 mRNA expression was
also evaluated. No significant correlations were observed between
hTERT mRNA expression and hTERT promoter methylation, as well
as between telomerase activity and hTERT promoter methylation in
normal and in premalignant cervical specimens . E6/E7 HPV-16 mRNA
expression was observed in 72% of HPV-16 infected samples and
was correlated with hTERT mRNA expression and telomerase activity
(p