Genetic tests in cancers have become specified to person (tailor-made). The genetic tests can be used for helping diagnosis, modifying follow-up procedure, predicting prognosis and the selection of the right medicine for the oncological patients. Disorders causing cancer, genetic mutations, gene increase, deletion, translocation and other abnormalities are detected with genetic tests.
In our Genetic Diagnosis Center which is licenced by the Ministry of Health and having the certificates of United Kingdom National External Quality Assessment Service (UKNEQAS), Munich Ludwig Maximilian University (LMU) all cytogenetic, moleculocytogenetics and molecular genetics tests for cancer diagnosis, treatment and prognosis, which are regulated by National Compherensive Cancer Network (NCCN), are run from blood, bone marrow, cell culture, fresh tumor tissue and paraffin blocks.
Hematooncological genetic tests: All chromosomal abnormalities, translocations, deletions causing hematological cancer are detected with conventional cytogenetic and cytomolecular methods. For example, for the most frequent hematological malignancies;
In Acute Lymphocytic Leukemia t(8-14),t(8-22),t(4-14),t(9-11),t(12-21),14q11. In Acute Myeloblastic Leukemia Cep 8,t(8-21),İnv 16,-5del,t(12-21),t(4-11),t(15-17). In Chronic Lymphocytic Leukemia +12,del 11q22.3,del 13q14,del 17p13,P53,del6q23 vb translocations and microdeletions are studied.
In Chronic Myelocytic Leukemia discovery of Philadelphia t(9-22) chromosome is a model sample for pathogenesis of malignity development. And with BCR-ABL tyrosine kinase inhibitor Imatinibin's entering into clinical use, resistance to treatment has become a current issue. The fact that it is detected that the mechanism responsible for the resistance generalization is BCR-ABL dependent and particularly is the mutations of BCR-ABL tyrosine kinase area has led the generalization of new tyrosine kinase inhibitors. However the fact that some mutations, T315I, are resistant to new tyrosine kinase inhibitors has led development of new treatments methods in CML treatment . In our days, experimental and clinical studies about both imatinib resistance mechanism and prevention and treatment of resistance development are increasingly continuing. In our Center, known or unknown mutation existence is analyzed with “direct DNA sequencing “ method.
BRCA1 and BRCA2 are the genes relevant to the risk of breast and ovary cancer. It is known that the existence of a mutation on these genes increases the risks of breast and overy cancer and with a lower portion, colon and pancreatic cancer among the women and risks of breast and prostate cancer among the men. Lifelong breast cancer risk among all the women in the society is calculated as %13.2, on the other hand, the same risk is calculated as %36-85 among the women who carry the mutated forms of BRCA1 or BRCA2 genes. In our center, known or unknown mutation existence is analyzed by scanning the axon belonging to genes with “direct DNA sequencing” method. Fish and Her2 Neu Gen amplification are operated from breast tissue paraffin block.
K-ras is a proto-oncogenic. K-ras gene connects to the GTP with an external stimulus stimulating the cell growth and division and plays a physiological role in cell growth and division by becoming active and transferring the stimulus to the intracellular message line. It has gained importance to determine the treatment method according to examination of the Kras genetic area consisting of 7 parts and after the examination whether genetic changes are found or not in patients with large intestine cancer. It is determined that Mutation of the part named as kodon 12 and 13 and located in 1st exo of the Kras gene leads the resistance to medicine in patients. For this reason, the examination of this area before the treatment determines the treatment approach. Accordingly, it is emphasized that the similar approach is important for the patients in head and neck region cancers.Lung Cancer:
Somatic mutations of epidermal growth factor receptors (EGFR) in non- small lung cancers is known as a factor increasing the bioavailability “gefinitib” treatment used as EGFR inhibitor. According to the fact that the EGFR DNA analysis is able to lead the treatment protocol in patients with lung and pancreatic cancer and according to the scientific date obtained from the studies mutations frequently exist on 18, 19, 20 and 21st exon. Primers have been designed and optimization has been realized in order to be able to make the sequence analysis of these four important exons. In our center, mutations can be detected by investigating sequence analysis of these four important exons. EGFR, ROS1 amplification and ALK EML/ALK t(2;5) translocation/ fusion are looked with fish.
MDR1,MDR2, MRP1, MRP2, cytidine deaminase, timidilate synthase Gene Expression Analysis: Tumor cells may develop resistance to one or more cytostatics with various mechanisms. The resistance generally arises from the spontaneous mutations in cancer cells. Resistant phenotype comes out early period when it cannot be determined in clinic. Treatments in which the medicines having different affect mechanism are used in a combination and made in an early period before resistant cell populations come out increase the success of the cancer treatment. Medicine resistance is the most important handicap for the success of the treatment of both small cell and non-small cell lung cancer. MDR1,MDR2, MRP1, MRP2, cytidine deaminase, timidilate synthase genes which are responsible for the multiple medicine resistance in lung cancer play an important role in resistance mechanism. In our center gene expression belonging to all these genes can be analyzed quantatively.
EGFR amplifications in accordance with the cancer type or 1p,19q Co deletions with Fish