Hematology
Today, the importance of genetic tests in hematologic diseases such as leukemia and lymphoma has been justified. With the studies performed, the effectiveness of the examination of specific genetic zones in certain disease groups has been proven in some points such as diagnosing and determining the prognosis in the patients. Moreover, it is possible to determine the type of treatment to be applied as a result of the genetic examinations performed in some cases. These genetic tests can also be requested today in order to determine the repetition of the disease at early stages. Recently occurring numerical (such as trisomia etc.) and structural (such as translocation, deletion etc.) anomalies can be determined by performing chromosome analysis on bone marrow and/or peripheral blood samples in some of the patients. FISH tests are also being applied on some patients and the mutations, which are not possible to determine with chromosome analysis, can be determined.
Oncology
The relation of the cancer development with the genetic mutations is known for long years. After the studies performed, the existence of genetic factors in almost 10% of all cancers is proven. During the genetic researches performed on frequently observed cancer types, some genetic mutations gained by time have been determined in the patients. The mutations in these genetic zones, which are called oncogen, occur on the somatic cells and do not pass to the other members of the family. In addition to this, it causes cancer development in individuals with observed mutation.
In some cancer groups, the familial susceptibility attracts attention. The genetic zones called tumor suppressor gene are responsible for the development of such cancers. For the mutations in these zones to cause cancer, the genetic structure coming both from the mother and the father must be mutated. The first mutation, frequently, is received from one of the parents and the second mutation occurs by time.
Today, it is determined that 10% of breast, over, colon and uterus cancers occur from known genetic mutations. Particularly in people with BRCA1 and BRCA2 mutations, the breast and over cancer development risk is more than 80 and 20-65% respectively. Likewise, for the people receiving the single mutation for one of HNPCC genes (MLH1, MSH2 and MSH6) from their family, the risk for colon cancer development is around 90% and for uterus cancer development is around 40%. The over cancer risk for these people is also 12% and the risk for developing stomach cancer is increased.
The genetic tests applied in this field to the patients in our Center are as follows.