Clinical Implications of Real-time Integrative Sequencing in Management of Patients With Suspected Germline BAP1 Mutations.
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ABSTRACT:
SUBMITTER: Sengupta S
PROVIDER: S-EPMC6139285 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
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Clinical Implications of Real-time Integrative Sequencing in Management of Patients With Suspected Germline BAP1 Mutations.
Sengupta Shayan S Weyand Angela C AC Upadhyaya Santhosh A SA Wu Yi-Mi YM Robinson Dan R DR Mody Rajen J RJ
Journal of pediatric hematology/oncology 20190501 4
Germline mutation of BRCA-associated protein-1 has been implicated in the development of tumor predisposition syndrome and high risk for malignant mesothelioma, lung adenocarcinoma, uveal melanoma, and cutaneous melanoma. Here, we present the case of a patient with recurrent metastatic melanoma who was found to have germline BAP1 and somatic BRAF mutation by clinical genomic sequencing. Detection of a germline mutation prompted screening for other cancers and surveillance in family members. Pros ...[more]
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