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An inherited disorder that increases the risk of a variety of malignant and benign tumors most commonly occurring in the skin, eyes, kidneys, chest, abdomen and mesothelium. Affected individuals can develop one or more types of neoplasm and affected members of the same family can have different types. Malignancies arise at a younger age, are often more aggressive and tend metastasize. The disease is caused by mutations in the BAP1 gene. In addition to a germline mutation in one copy of the gene, a second somatic mutation usually occurs in the normal copy of the gene in cells that give rise to neoplasms. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumor cells. Inherited in an autosomal dominant pattern, 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 however not all will develop a tumor.
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An inherited disorder that increases the risk of a variety of malignant and benign tumours most commonly occurring in the skin, eyes, kidneys, chest, abdomen and mesothelium. Affected individuals can develop one or more types of neoplasm and affected members of the same family can have different types. Malignancies arise at a younger age, are often more aggressive and tend metastasise. The disease is caused by mutations in the BAP1 gene. In addition to a germline mutation in one copy of the gene, a second somatic mutation usually occurs in the normal copy of the gene in cells that give rise to neoplasms. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumour cells. Inherited in an autosomal dominant pattern, 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 tumour formation however not all will develop a tumour.
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