Comprehensive Review of BAP1 Tumor Predisposition Syndrome
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Date
2015-03-25
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Abstract
BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a rapidly developing area of medical research. Germline mutations in this multifaceted tumor suppressor gene predispose families to the development of various malignancies. The molecular function of the gene as well as the clinical phenotype of the syndrome are still being clarified. We sought to conduct a complete review of all published research into BAP1-TPDS to more thoroughly understand the clinical implications of BAP1 mutations. This information, in conjunction with phenotypic characteristics such as age of onset, disease aggressiveness, and survival can aid in the management, diagnoses, prognoses, and therapy of these patients and their families. We found that germline BAP1 mutations predispose families to the development of uveal melanoma, renal cell carcinoma, mesothelioma, cutaneous melanoma, characteristic benign skin lesions and possibly a range of other cancers. These cancers tend to be more aggressive, have a propensity to metastasize, and onset earlier in life in patients with BAP1 mutations. Genetic counseling and clinic management for these patients and their families are recommended. Further research on families carrying BAP1 mutations is necessary; however, this is an important step toward clinical application of the published research on the topic.
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Health Professions - Clinical: 4th Place, Honorable Mention (The Ohio State University Denman Undergraduate Research Forum)
Keywords
cancer, hereditary, mutation, germline, syndrome, genetics