Compositions and methods for detecting cancer metastasis

Abstract

The present invention encompasses compositions and methods for detecting cancer metastasis.

What is claimed is: 
     
         1 . A method for determining the risk of melanoma metastasis in a subject, the method comprising:
 (a) analyzing BAP1 nucleic acid from a cell in a sample obtained from a subject,   (b) detecting the presence of a truncating in the BAP1 nucleic acid mutation using multiplex ligation-dependent probe amplification, wherein the mutation is selected from the group consisting of:
 i. a nonsense mutation selected from the group consisting of Q36X, W196X and Q253X of BAP1; 
 ii. an insertion or deletion mutation in exon 2, 4, 5, 6, 7, 8, 9, 11, 12, 13 or 17 of BAP1; and 
 iii. a splice acceptor mutation in exon 16 of BAP1; and 
   (c) identifying the subject as having an increased risk for metastasis when a mutation is detected.   
     
     
         2 . The method of  claim 1 , wherein the melanoma is uveal melanoma. 
     
     
         3 . The method of  claim 1 , wherein the sample is a tumor sample. 
     
     
         4 . The method of  claim 3 , wherein the sample is collected from a primary tumor or from a circulating tumor cell. 
     
     
         5 . The method of  claim 4 , wherein the circulating tumor cell is collected from a bodily fluid. 
     
     
         6 . A method for prognosing melanoma in a subject, the method comprising:
 (a) analyzing BAP1 nucleic acid from a cell in a sample obtained from a subject,   (b) detecting the presence of a truncating mutation in the BAP1 nucleic acid mutation using multiplex ligation-dependent probe amplification, wherein the mutation is selected from the group consisting of:
 i. a nonsense mutation selected from the group consisting of Q36X, W196X and Q253X of BAP1; and 
 ii. an insertion or deletion mutation in exon 2, 4, 5, 6, 7, 8 or 9 of BAP1; and 
   (c) identifying the subject as having poor prognosis when a mutation is detected.   
     
     
         7 . The method of  claim 6 , wherein the melanoma is uveal melanoma. 
     
     
         8 . The method of  claim 6 , wherein the sample is a tumor sample. 
     
     
         9 . The method of  claim 8 , wherein the sample is collected from a primary tumor or from a circulating tumor cell. 
     
     
         10 . The method of  claim 9 , wherein the circulating tumor cell is collected from a bodily fluid.