Article
Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients.
Genes, chromosomes & cancer - 1 Sept 2018
Massengill James B, Sample Klarke M, Pilarski Robert, McElroy Joseph, Davidorf Frederick H, Cebulla Colleen M, Abdel-Rahman Mohamed H
Abstract excerpt
The BAP1-tumor predisposition syndrome (BAP1-TPDS) has been recently identified to predispose patients to a variety of cancers and preneoplastic lesions. About 130 unrelated probands have been identified worldwide; however, the impact of the syndrome is suspected to be much larger given the diversity of the cancer phenotype. To evaluate the frequency of germline BAP1 mutations in the general and cancer...
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