Genetic Check-Up in Cancer Diseases

Genetic Check-Up in Cancer Diseases

Cancer is fundamentally a genetic disease and arises from the uncontrolled proliferation of certain cells in the body. Since there are both environmental and genetic factors affecting cancer formation, it is a multifactorial disease, and particularly in certain organs, an individual’s genetic makeup plays a significant role in cancer development. The human genetic structure contains both proto-oncogenes that trigger cell proliferation and tumor suppressor genes that control and repair possible errors in the DNA sequence, pushing genetically defective cells towards programmed death. Cancer develops as a result of familial inherited (germline) or acquired (somatic) mutations, leading to the uncontrolled proliferation of cells when proto-oncogenes gain oncogenic properties or when tumor suppressor functions fail.

We can list the organs where genetic makeup is important in determining treatment as breast, ovary, prostate, colorectal, endometrial, and hereditary papillary thyroid. In this regard, genetic screening can allow for preventive measures to be taken before clinical findings emerge in individuals at risk. People with multiple cases in their family or those with the same type of cancer seen in different family members across generations are at risk. Genetic diseases such as Lynch and Li-Fraumeni syndrome are examples of this. Therefore, individuals with a family history are recommended to undergo genetic check-ups for early diagnosis and treatment. Disease-specific tests included in this check-up are the BRCA1 and BRCA2 mutation tests recommended for breast and ovarian cancer risk, and the APC test recommended for colon and rectal cancer risk. This genetic analysis can be performed with the individual’s consent from the age of majority. Genetic check-ups in cancer diseases provide significant advantages in preventing and treating cancer by enabling preventive treatment and early diagnosis.

Which Cancers Can Be Detected with Genetic Check-Up?

Cancer is a multifactorial disease. It has both environmental and genetic causes. However, it primarily arises under the influence of changes occurring in genetics, making it fundamentally a genetic disease. Not every change that occurs is inherited by subsequent generations. Cancers that exhibit genetic transmission are referred to as familial cancer diseases, and mutations in both oncogenes and tumor suppressor genes, if they occur in germ cells, can be inherited. Hereditary cancer syndromes can particularly be observed in certain organs. These include

• Breast and Ovary
• Prostate
• Colorectal
• Lung
• Papillary Thyroid
• Melanoma
• Endometrial

We can give examples of cancers.

An example of hereditary syndromes is Lynch syndrome, which is associated with genetic defects in genes involved in DNA repair mechanisms. It is particularly typical for causing colorectal cancer and is also known as Familial Non-Polyposis Colorectal Cancer. In Li-Fraumeni syndrome, characterized by mutations in the TP53 gene, different types of cancer can be seen in family members. Diseases such as soft tissue sarcoma, osteosarcoma (bone cancer), breast cancer, and glioblastoma (a type of brain cancer) can be observed with this syndrome and can be detected through genetic check-up.

Individuals who are of legal age, have a family history of cancer across several generations, suspect they have undergone genetic mutation, or want to learn whether their cancer is hereditary can undergo genetic check-up testing. If a relevant finding is detected in the genetic check-up result, a consultation with an oncology specialist should be sought. Hisar Hospital Intercontinental provides all kinds of health services, including oncology.

What Tests and Screenings Does Genetic Check-Up Include?

These tests are conducted by taking body fluid or tissue samples such as blood and saliva. Blood collection is also referred to as liquid biopsy. In this method, tumor genes circulating in the blood are examined. Many genes are analyzed in this check-up.

• BRCA1 and BRCA2 Test: The BRCA1 and BRCA2 genes function as tumor suppressor genes. Mutations in these genes lead to uncontrolled proliferation of cells in certain organs. It is a test commonly used in ovarian, breast, and prostate cancers. A positive test indicates a high risk for the individual, and if this mutation is already present, it suggests familial transmission. A negative test does not indicate the absence of tumor formation but indicates that there is no hereditary condition. Individuals with a positive BRCA mutation should undergo regular check-ups. Preventive surgical measures, such as tissue removal, can be taken in patients with detected BRCA gene mutations.
• APC Test: The APC gene is a gene that suppresses the cancerization of colorectal tissue. Colorectal cancer is highly affected by genetic diversity. This test is examined in individuals with Familial Adenomatous Polyposis disease, characterized by polyps in the colon and rectum, and the genetic abnormality observed is a mutation of the APC gene.
• BRAF Test: The BRAF gene plays a role in the controlled division and growth of cells. Individuals with melanoma, which means malignant skin cancer, generally have mutations in the BRAF gene. This test, conducted by taking a tissue sample, examines the BRAF mutation. In positive cases, drug treatment is applied for favorable outcomes in long-term therapy.
• KRAS Test: The KRAS gene produces the KRAS protein. Mutations in the KRAS protein lead to aggressive cell growth. This gene is generally damaged in the proliferation and tumor formation of lung and pancreatic cells.
• Panel tests: In panel tests, mutations in multiple genes are examined rather than a single specific gene. It can be performed for colorectal cancer and familial breast or ovarian cancer.
• Gene expression tests: These tests can provide additional information about the tumor’s course, biology, and diagnostic factors, especially for breast cancer.

In some cases, these genetic tests can be diagnostic. A syndrome or disease with symptoms that has not yet been detected can emerge through gene testing. A negative test does not mean that cancer will not occur. It may indicate that there is no mutation related to this disease and that the individual does not carry it genetically. Tests may not always provide a complete answer. An unclear result outside of negative or positive may also occur. In this case, a genetic specialist can interpret what it means for the individual.

Genetic tests can facilitate the early detection of the disease in individuals at risk for hereditary cancer and the implementation of appropriate preventive measures.

How Often Should Genetic Check-Up Be Done?

Genetic check-up tests can be performed from the age of majority. If a child is desired in the family, genetic tests can also detect syndromes that may cause cancer. Regular check-ups and consulting a genetic specialist to ensure that check-ups are not neglected can facilitate early diagnosis. Individuals with a positive result for a specific gene in genetic check-up should undergo routine check-ups according to the type of cancer they are predisposed to. Those with negative results should not neglect routine health checks. You can obtain detailed information and make an appointment for these checks at Hisar Hospital Intercontinental.

Is It Possible to Prevent Cancer Diseases with Genetic Check-Up Program?

Genetic tests aimed at cancer screening should be evaluated within the balance of risk and probability. Individuals with a high probability of developing a specific type of cancer should not neglect their routine check-ups. In addition to routine check-ups, there are also lifestyle changes that can be made in daily life. Cancer is a disease influenced by lifestyle and environmental factors in its formation process. Regular exercise and a healthy eating plan, avoiding harmful habits, and managing stress can help keep the body healthy in every aspect. Consuming foods that strengthen the immune system can enhance the body’s resilience. Excessive consumption of red meat may increase the risk of colorectal cancer, while the intake of calcium, fiber, and whole grains may reduce this risk. Especially, smoking has negative effects on many diseases. The use of oral contraceptives, obesity, or excessive alcohol consumption may further increase the risk of breast and ovarian cancer, particularly in individuals who test positive for the BRCA gene.

In addition to lifestyle changes, preventive surgical methods can also be applied. Operations such as the removal of tissue prone to tumor formation or the removal of ovaries or breast tissue in individuals who test positive for BRCA1 and BRCA2 are among these methods. Drug treatment may also be initiated. Regular testing for urogenital diseases in women over 40 is important, regardless of whether there is a gene mutation. Radiological methods such as mammography and magnetic resonance imaging (MRI) should be regularly performed by individuals with gene mutations.

Gene therapy has been applied in many areas in recent years and remains a broad field still being explored. It can also be used for cancer cells. Immunotherapy stimulates the immune system to kill cancerous cells using genetically modified cells and viral particles. Oncolytic virotherapy is another promising method that is still under development. It relies on the replication of the cancer cell to cause cell death. Gene transfer to damaged cells or surrounding tissue is also a treatment still being researched.

Frequently Asked Questions About Genetic Check-Up in Cancer Diseases

Genetics is still a broad field of science being explored. New data is being obtained through studies on which types of cancer are hereditary and the tests that can be performed for their detection.

You can make an appointment with the Genetic Department of Hisar Hospital Intercontinental for genetic check-up in cancer diseases and for information or for an oncology appointment for a type of cancer identified as high risk.