Diagnostiki Athinon’s genetic predisposition to neoplasms and precancerous malformations includes genetic testing for the predisposition of 20 different diseases.
The polygenic risk score (PRS) is used in the context of neoplasms and precancerous malformations. It combines information from multiple genetic polymorphisms to assess an individual's overall genetic predisposition to each disease separately.
The neoplasms and precancerous malformations analyzed with this test are:
Cancer of the oral cavity and oropharynx refers to malignancies that develop in the mouth, throat, tongue, or tonsils. Risk factors include tobacco and alcohol use, as well as infection with the human papillomavirus (HPV). Treatment may include surgery, radiation therapy, and chemotherapy, depending on the location and stage of the cancer. The assessment of the Polygenic Risk Score for oral cavity and oropharynx cancer is based on examining 6 gene polymorphisms.
Barrett's esophagus is a condition in which the lining of the esophagus changes, similar to the lining of the intestine. This transformation is often associated with chronic gastroesophageal reflux disease (GERD). Barrett's esophagus is a risk factor for esophageal adenocarcinoma. Monitoring and managing acid reflux through lifestyle changes and medications are essential to reduce the risk of progression to cancer. The assessment of the Polygenic Risk Score for Barrett's esophagus is based on examining 16 gene polymorphisms.
Pancreatic cancer is a malignant tumor that develops in the pancreas, an organ located behind the stomach. It is often diagnosed at an advanced stage, leading to a poor prognosis. Treatment options may include surgery, chemotherapy, radiation therapy, and targeted therapies, depending on the stage and characteristics of the cancer. The assessment of the Polygenic Risk Score for pancreatic cancer is based on examining 13 gene polymorphisms.
Primary biliary cirrhosis (PBC) is a chronic autoimmune liver disease characterized by the destruction of small bile ducts in the liver. This condition can lead to cirrhosis and liver failure. Treatment includes medications to slow disease progression and manage symptoms, with liver transplantation considered in severe cases. The assessment of the Polygenic Risk Score for primary biliary cirrhosis is based on the examination of 38 gene polymorphisms.
Colorectal cancer refers to cancer that develops in the colon or rectum. Regular checkups, such as colonoscopies, are vital for early detection. Treatment options for colorectal cancer include surgery, chemotherapy, and radiation therapy, depending on the stage and location of the cancer. The assessment of the Polygenic Risk Score for colorectal cancer is based on the examination of 74 gene polymorphisms.
Squamous cell carcinoma of the skin is a common type of cancer arising from squamous cells. It is often caused by prolonged exposure to ultraviolet (UV) radiation. Treatment includes surgical removal of the tumor, radiation therapy, and, in some cases, chemotherapy. The assessment of the Polygenic Risk Score for squamous cell carcinoma is based on examining 18 gene polymorphisms.
Basal cell carcinoma is the most common type of skin cancer, usually occurring in the basal cells of the outer layer of the skin. It often appears as a slow-growing, white, or waxy lump and is usually caused by exposure to ultraviolet (UV) radiation. While basal cell carcinoma rarely spreads to other parts of the body, prompt treatment, such as surgical removal, is necessary to prevent local tissue damage. The assessment of the Polygenic Risk Score for basal cell carcinoma is based on the examination of 68 gene polymorphisms.
Malignant melanoma is a type of skin cancer that results from melanocytes, the cells that produce pigments in the skin. It can spread to other body parts if not detected and treated early. Prevention includes sun protection measures, and treatment may include surgery, immunotherapy, or targeted therapy, depending on the cancer stage. The assessment of the Polygenic Risk Score for malignant melanoma is based on the examination of 60 gene polymorphisms.
Glioblastoma is an aggressive and malignant brain tumor arising from glial cells. It is the most common form of primary brain cancer in adults. Glioblastomas are known for their rapid growth and ability to penetrate surrounding brain tissue. Treatment often includes surgery, radiation therapy, and chemotherapy, but the prognosis remains poor. The assessment of the Polygenic Index Score for glioblastoma is based on the examination of 10 gene polymorphisms.
Glioma is a broad term that includes tumors that originate from glial cells in the brain or spinal cord. These tumors can be benign or malignant and cause symptoms based on location and size. Treatment options vary and may include surgery, radiation therapy, and chemotherapy, depending on the type and degree of glioma. The assessment of the Polygenic Risk Score for glioma is based on the examination of 9 gene polymorphisms.
Neuroblastoma is a type of cancer that occurs most often in young children and affects nerve tissue. Symptoms may include the presence of a mass, abdominal pain, and changes in bowel habits. Treatment depends on the stage of the cancer and includes surgery, chemotherapy, radiation therapy, and stem cell transplantation. The assessment of the Polygenic Risk Score for neuroblastoma is based on the examination of 6 gene polymorphisms.
Lung cancer is a malignancy that originates in the lungs and is often associated with smoking. Symptoms may include persistent cough, chest pain, and shortness of breath. Treatment options include surgery, chemotherapy, radiation therapy, and targeted therapies, depending on the type and stage of the cancer. The assessment of the Polygenic Risk Score for lung cancer is based on examining 21 gene polymorphisms.
Multiple myeloma is a cancer of plasma cells, a type of white blood cell found in the bone marrow. It can lead to bone pain, anemia, and kidney problems. Treatment includes chemotherapy, stem cell transplantation, and targeted therapies. The assessment of the Polygenic Risk Score for multiple myeloma is based on examining 9 gene polymorphisms.
Myeloproliferative neoplasms are a group of disorders characterized by the overproduction of blood cells in the bone marrow. The pathological conditions included are polycythemia vera, thrombocythemia, and myelofibrosis. Treatment may include medications or other interventions to manage symptoms and prevent complications. The assessment of the Polygenic Risk Score for myeloproliferative neoplasms is based on examining 12 gene polymorphisms.
Chronic lymphocytic leukemia (CLL) is a type of cancer of the blood and bone marrow, leading to the overproduction of abnormal lymphocytes. It is a slowly progressing disease, and treatment depends on the stage of leukemia and the patient's overall health. Treatment options may include chemotherapy, immunotherapy, and targeted therapies. The assessment of the Polygenic Risk Score for chronic lymphocytic leukemia is based on the examination of 36 gene polymorphisms.
Prostate cancer is a malignancy that develops in the prostate, a gland in the male reproductive system. It is one of the most common cancers in men. Treatment options vary and may include monitoring, surgery, radiation therapy, hormone therapy, chemotherapy, and immunotherapy, depending on the stage and characteristics of the cancer. The assessment of the Polygenic Risk Score for prostate cancer is based on examining 214 gene polymorphisms.
Endometrial cancer is a type of cancer that originates in the lining of the uterus (endometrium). Symptoms may include abnormal vaginal bleeding. Treatment often involves surgery, such as a hysterectomy, along with radiation therapy, chemotherapy, or hormone therapy, depending on the stage and characteristics of the cancer. The assessment of the Polygenic Risk Score for endometrial cancer is based on the test 15 gene polymorphisms.
Non-medullary thyroid carcinoma refers to several types of thyroid cancer that do not originate in the medullary cells of the thyroid. Papillary and follicular thyroid cancers are common subtypes. Treatment may include surgery, treatment with radioactive iodine, and, in some cases, thyroid hormone replacement. The assessment of the Polygenic Risk Score for non-medullary thyroid carcinoma is based on the examination of 11 gene polymorphisms.
Non-toxic multinodular goiter is a thyroid disorder characterized by multiple nodules in the thyroid gland, leading to thyroid enlargement. Although not cancerous, these nodules can cause difficulty swallowing or breathing. Treatment options depend on the size and symptoms of the goiter and may include medication or surgery. The assessment of the Polygenic Risk Score for non-toxic multinodular goiter is based on examining 22 gene polymorphisms.
Nasal polyps are non-cancerous formations that develop in the lining of the nasal passages or sinuses. They can cause symptoms such as nasal congestion, runny nose, and impaired sense of smell. Treatment includes medications to reduce inflammation or, in some cases, surgical removal of polyps. The assessment of the Polygenic Risk Score for nasal polyps is based on examining 20 gene polymorphisms.
Polygenic Risk Score
The Polygenic Risk Score (PRS) is a numerical value that summarizes a person's genetic predisposition to a particular trait, condition, or disease based on information from multiple genetic variants throughout the genome. Polygenic risk scores are used in genetics to evaluate the cumulative effect of multiple genetic factors on a particular outcome.
The polygenic risk score shall be calculated as follows:
- Genetic variations: A set of genetic variants, often single-nucleotide polymorphisms (SNPs), associated with a particular trait or disease are identified. These SNPs are distributed throughout the individual's genome.
- Weighted contributions: Each genetic variant is assigned a weight (weighted contribution) based on its observed association with the trait or disease in large-scale genetic studies. Weighted contributions are determined through statistical analyses that consider the strength of the association for each variant.
- Summing: The weights of genetic variants are then combined for an individual to create the polygenic risk score. This score reflects the individual's genetic risk for the trait or disease.
- Interpretation: The polygenic risk score is often expressed as a numerical value. Higher values indicate a greater genetic predisposition to the trait or disease, while lower markers indicate a lower genetic risk.
Polygenic risk scores have been applied to various health-related conditions, including complex diseases such as diabetes, heart disease, and psychiatric disorders. They are increasingly used to assess a person's genetic predisposition to situations with a multifactorial genetic basis.
In the context of many diseases, such as those mentioned before, polygenic risk markers are used to understand better the genetic component of the risk of developing the disease. These markers can help identify high-risk individuals without a strong family history and have applications in personalized medicine, risk prediction, and early intervention.
It is important to note that although polygenic risk scores provide valuable information about genetic risk, they are only one piece of the puzzle. Environmental factors, lifestyle choices, and other non-genetic factors also play an essential role in developing complex diseases.
