期刊
CLINICAL GENETICS
卷 89, 期 3, 页码 285-294出版社
WILEY
DOI: 10.1111/cge.12630
关键词
BAP1; cutaneous melanoma; germline; mesothelioma; renal cell carcinoma; uveal melanoma
资金
- Patti Blow Research Fund in Ophthalmology from the American Cancer Society [IRG-67-003-47]
- Ohio Lions Eye Research Foundation
- Ocular Melanoma Foundation
- Melanoma Know More Foundation
- National Cancer Institute [R21CA191943]
- National Eye Institute [K08EY022672]
The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a recently identified hereditary cancer syndrome. Germline mutations in this tumor suppressor gene predispose families to the development of various malignancies. The molecular functions of the gene as well as the clinical phenotype of the syndrome are still being clarified. We sought to conduct a comprehensive review of published research into BAP1-TPDS to more thoroughly delineate the clinical implications of germline BAP1 mutations. We also report two additional families with germline BAP1 mutations. Current evidence demonstrates that germline BAP1 mutations predispose families to uveal melanoma, renal cell carcinoma, malignant mesothelioma, cutaneous melanoma, and possibly to a range of other cancers as well. Some of these cancers tend to be more aggressive, have a propensity to metastasize, and onset earlier in life in patients with BAP1 mutations as compared to non-predisposed patients with equivalent cancers. Although further research is necessary, this information can aid in the management, diagnosis, and therapy of these patients and their families, and highlights the importance of genetic counseling.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据