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BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of certain types of cancer (malignant). This syndrome is most common in the skin, kidneys, eyes or tissues surrounding the chest and abdomen as well as the membranes surrounding internal organs.1. Symptoms of BAP1 . tumor predisposition syndrome
People with BAP1 tumor predisposition syndrome often have many
tumors or dozens of Spitz atypical tumors. This tumor is usually benign, although it is not known whether it will develop into a malignancy.
With BAP1 tumor predisposition syndrome, it is common to have malignancy in the middle membrane of the eyeball. Although there are no specific symptoms, when sick, the patient will feel blurred vision, appear small dots of flashing light or movement in the field of vision. Sometimes dark spots appear in the eyes and headaches. If this happens, the patient should immediately go to the hospital for examination.
With carcinoma, when combined with BAP1 tumor predisposition syndrome, the patient will have malignancy in the membranes lining the abdomen or surrounding the abdomen.
With patients with skin cancer, malignant tumors will appear in the skin.
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People with BAP1 tumor predisposition syndrome have cancer that tends to occur in young adults and is much more severe than in people with cancer. At this time, the malignancies in BAP1 tumor-prone syndrome will spread quickly and metastasize to many other parts of the body, which is difficult to control. Therefore, people with this syndrome with cancer will have a shorter life expectancy than people with common cancers.
Each person's body is different, so there will be different symptoms. Therefore, patients need to be examined early and treated according to the doctor's regimen.
2. Causes of BAP1 . tumor predisposition syndrome
The main cause of BAP1 Tumor Predisposition Syndrome is mutations in the BAP1 gene.
BAP1 protein plays a role as a tumor growth inhibitor, preventing cancer cells from growing and dividing or when those cells get out of control. The main function of the BAP1 Protein is to remove ubiquitin molecules from certain proteins, thereby affecting the protein's activity and its cooperation and interaction with other proteins. When ubiquitin was removed, BAP1 helped to regulate diverse cellular processes. BAP1 protein will participate in the process of cell growth, cell division, dead cells repair, damaged DNA and control gene activity in the body.
Mutations in the BAP1 gene lead to the production of a replacement protein that cannot function as it should and can be destroyed prematurely. In addition to genetic mutations, there are also non-hereditary mutations in one copy of a gene found in each of the body's basic cells, which usually occur in normal copies of genes in cells and increase mass. u. It is this genetic mutation combined with mutations in the body that have lost the main function of the BAP1 protein in cancer cells. As a result, the protein will weaken and from there it will be difficult to remove ubiquitin from certain proteins. The researchers believe that, when reducing BAP1 function, it leads to BAP1 tumor susceptibility syndrome.
Gen BAP1
3. Factors that increase the risk of BAP1 . tumor predisposition syndrome
The main factor is genetic factor, a risk factor for BAP1 tumor predisposition syndrome. BAP1 tumor predisposition syndrome is autosomal dominant. One copy of the BAP1 gene has the potential to grow or increase the number of tumors. Most will be influenced by a parent with this syndrome.
4. Treatment for BAP1 . tumor predisposition syndrome
Currently, science still has no cure for this condition. Therefore, the doctor will prescribe a treatment regimen depending on the patient's symptoms and different disease conditions to control and prevent complications of BAP1 tumor predisposition syndrome.
Periodic health check-ups help to detect diseases early, so that there are treatment plans for optimal results. Currently, Vinmec International General Hospital has general health checkup packages suitable for each age, gender and individual needs of customers with a reasonable price policy.
The patient's examination results will be returned to the home. After receiving the results of the general health examination, if you detect diseases that require intensive examination and treatment, you can use services from other specialties at the Hospital with quality treatment and services. outstanding customer service.
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