"BAP1-Dependent Tumor Predisposition Syndrome" – What Is It?
BAP1-dependent tumor predisposition syndrome (BAP1-TPDS) describes a hereditary condition that can lead to a variety of malignant cancers, such as eye and skin cancer.
How Is "BAP1-Dependent Tumor Predisposition Syndrome" Diagnosed?
The diagnosis is made by experts using a genetic test for a hereditary change (mutation) in the BAP1 gene. In the case of an accumulation of BAP1-TPDS associated tumors within the family, a genetic test for a BAP1 mutation is recommended. In addition, family members of BAP1 mutation carriers should also be recommended genetic testing due to the high risk of cancer.
What Is the Risk of Cancer?
BAP1-TPDS patients have an increased risk of a variety of different types of cancer:
- Uveal melanoma: Uveal melanoma is a tumor of the choroid and the most common cancer in BAP-1 TPDS. 31% of all BAP-1 TPDS patients have been diagnosed with uveal melanoma. Studies have shown that uveal melanoma appears to be more aggressive in BAP-1 TPDS patients than in the rest of the population.
- Malignant mesothelioma: Malignant mesothelioma is the second most common cancer among BAP1 mutation carriers. In general, 80% of malignant mesotheliomas are lung mesotheliomas as opposed to peritoneal mesotheliomas. In BAP1 mutation carriers, however, the ratio of peritoneal to lung peritoneal mesothelioma is higher. Peritoneal mesothelioma mainly occurs in people who have had increased contact with asbestos. In contrast to other types of cancer, such as uveal and malignant melanoma or renal cell carcinoma, it is assumed, based on numerous studies, that the probability of survival could be longer in the case of malignant mesothelioma.
- Malignant melanoma: Malignant melanoma is a skin cancer that occurs in 13% of BAP1-TPDS patients and is, therefore, the third most common tumor. Here, too, the mean age of onset is earlier in BAP1 mutation carriers than in the rest of the population (46 years vs. 58 years).
- Kidney cell carcinoma: Renal cell carcinoma is also one of the BAP1-TPDS-associated cancers. The mean age of onset for BAP1-TPDS patients is 47, compared to 64 for non-mutation carriers.
- Basal cell carcinoma: Basal cell carcinoma, a form of skin cancer, is also part of the tumor spectrum of the BAP1 tumor predisposition syndrome. Here, the average age of onset for mutation carriers is around 50 years.
There are also indications that other types of cancer, such as breast cancer and thyroid cancer, belong to the BAP1-TPD spectrum. However, this is still the subject of current research.
What Is Known About the Development of "BAP1-Dependent Tumor Predisposition Syndrome"?
The BAP1-TPDS is caused by a hereditary change in the “BRCA1-associated protein-1 (BAP1)” gene, which acts as a tumor suppressor gene. The task of a tumor suppressor gene in a healthy state is to prevent uncontrolled cell growth. A mutation, i.e., a hereditary change such as in BAP1-TPDS, causes this function to be lost, resulting in uncontrolled cell growth, i.e., a tumor.
The inheritance of BAP1 mutations is “autosomal dominant”, which means that parents who are mutation carriers run the risk of every second child developing the disease.
Is There Any Form of Treatment Available?
Patients with BAP1-TPDS should be treated by a multi-professional team on an interdisciplinary basis. Cancers in BAP1 mutation carriers are treated similarly to non-mutation carriers. In some cases, it may be advisable to treat BAP1-TPDS-associated tumors more aggressively, as some studies have shown that uveal melanoma, for example, appears to be more aggressive in BAP-1 mutation carriers.
The screening examinations compiled by experts listed below are particularly important for detecting tumors early and successfully treating them.
Diagnosis of " BAP1-Dependent Tumor Predisposition Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " BAP1-Dependent Tumor Predisposition Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
There are special screening tests for many types of cancer:
Choroidal Melanoma (Uveal Melanoma):
- Annual eye examinations and imaging of the eye by an oncologist specializing in the eye → from 11 years of age
- If uveal melanoma has been diagnosed, the patient should be monitored more closely to rule out metastases (e.g., imaging of the liver every 3-6 months, imaging of the lungs every 6-12 months)
Malignant Mesothelioma/Pleural Mesothelioma
- Annual physical examinations are recommended
Malignant Melanoma, Basal Cell Carcinoma, and Atypical Spitz Tumor
- Annual full-body dermatological examination → from age 20.
- Self-examination of the skin using the ABCD scheme → Recognising the characteristic features of melanoma
- If a typical Spitz tumor is found, genetic testing for a BRAF mutation and immunostaining for the BAP1 gene should be performed.
Renal Cell Carcinoma
- Annual ultrasound examination of the abdomen
- Urinalysis
BAP1-Dependent Tumor Predisposition Syndrome- What You Can Do Yourself
You Should Pay Attention to This
- Uveal melanoma:
- Arc welding should be avoided as it is associated with an increased risk of UM
- Sunglasses with high UVA and UVB protection could reduce the risk of cancer
- Pleural mesothelioma
- Avoid exposure to asbestos and cigarette smoking
- Malignant melanoma:
- Reduce increased sunlight exposure
- Wear sunscreen and protective clothing during UV exposure
- Regular dermatological examination
- Self-examination of the skin according to the ABCDE scheme -> note the characteristic features of melanoma
- A = Asymmetry → Do your skin changes have an even shape, or are they uneven, i.e., asymmetrical? If they are asymmetrical, you should urgently contact your dermatologist.
- B = Boundary → Is your skin change sharply defined? If the edges appear blurred, jagged, or uneven, you should urgently contact your dermatologist.
- C= Color → What color is your skin lesion? Multiple merging colors and black dots should be evaluated by a dermatologist.
- D= Diameter → If the diameter of your skin lesion is more than 2-6 mm, you should consult a dermatologist.
- E= Elevation → If your skin lesion protrudes more than 1 mm above the skin level, a dermatologist evaluation is recommended.
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You should also consult a doctor as soon as you notice frequent infections, increased or difficult-to-stop bleeding (e.g., prolonged or frequent nosebleeds), increased bruising, fatigue or a feeling of illness, fever, night sweats, or pallor. You should also urgently consult a doctor if you experience vomiting, weight loss, other gastrointestinal complaints, or clouding of consciousness. If other new symptoms or complaints occur, these should also be clarified as quickly as possible.
Further Information
Unfortunately, we are unaware of any support groups for patients with BAP1-TPDS. As soon as we have new information, we will add it here.
Any Further Questions?
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