Definition

 

What is BAP1 tumor predisposition syndrome?

BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium).

How common is BAP1 tumor predisposition syndrome?

BAP1 tumor predisposition syndrome is a rare condition; its prevalence is unknown. More than 70 families with the condition have been described in the medical literature. Please discuss with your doctor for further information.

 

Symptoms

What are the symptoms of BAP1 tumor predisposition syndrome?

Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.

Common symptoms of BAP1 tumor predisposition syndrome are:

  • Atypical Spitz tumors. People with this syndrome may have more than one of these tumors, and they can have dozens. Atypical Spitz tumors are generally considered benign, although it is unclear if they can become cancerous.
  • Skin cancers, including cutaneous melanoma and basal cell carcinoma.
  • Uveal melanoma-a type of eye cancer. This the most common cancerous tumor in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause any symptoms, some people with this type of cancer have blurred vision; small, moving dots (floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye.
  • Malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1 tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs in the outer covering of the lungs (the pleura).
  • Clear cell renal cell carcinoma – a form of kidney cancer. Researchers are still determining whether other forms of cancer are linked to BAP1 tumor predisposition syndrome.

When they occur in people with BAP1 tumor predisposition syndrome, cancers tend to arise at a younger age and are often more aggressive than cancers in the general population. The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize) to other parts of the body. Survival of affected individuals with this syndrome is usually shorter than in other people who have one of these cancers. However, individuals with malignant mesothelioma as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who have the cancer without the syndrome.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes BAP1 tumor predisposition syndrome?

BAP1 tumor predisposition syndrome is caused by mutations in the BAP1 gene. The BAP1 protein acts as a tumor suppressor, which means it helps prevent cells from growing and dividing too rapidly or in an uncontrolled way. Its function is to remove molecules called ubiquitin from certain proteins (deubiquitination), which can affect the activity of the protein and its interactions with other proteins. By removing ubiquitin, BAP1 helps regulate diverse cellular processes. The BAP1 protein is thought to be involved in cell growth and division (proliferation), cell death, repair of damaged DNA, and control of gene activity.

Mutations in the BAP1 gene lead to production of an altered protein that cannot function normally and may be broken down prematurely. In addition to an inherited (germline) mutation in one copy of the gene, which is found in essentially every cell of the body, a second, non-inherited (somatic) mutation usually occurs in the normal copy of the gene in cells that give rise to tumors. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumor cells. A shortage of this protein’s function likely impairs the removal of ubiquitin from certain proteins. Although it is unclear exactly how loss of BAP1 function leads to BAP1 tumor predisposition syndrome, researchers speculate that altered activity of proteins normally regulated by BAP1 deubiquitination may promote cell proliferation or survival, resulting in tumor formation.

Risk factors

What increases my risk for BAP1 tumor predisposition syndrome?

Risk factors for BAP1 tumor predisposition syndrome include genetic factors.

BAP1 tumor predisposition syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered BAP1 gene increases the chance of developing one or more tumors. In most cases, an affected person has one parent with the condition.

People with a mutation in the BAP1 gene inherit an increased risk of tumor formation. Not all people with a gene mutation will develop a tumor.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is BAP1 tumor predisposition syndrome diagnosed?

No diagnostic criteria have been published for the BAP1 tumor predisposition syndrome (BAP1-TPDS).

The diagnosis of BAP1-TPDS is established in a proband by identification of a heterozygous germline pathogenic variant in BAP1 on molecular genetic testing.

Please consult with your doctor for further information.

How is BAP1 tumor predisposition syndrome treated?

Please consult with your doctor for further information.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage BAP1 tumor predisposition syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 25, 2018 | Last Modified: January 25, 2018

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