COMPOSITIONS AND METHODS FOR DETECTING CANCER METASTASIS
The present invention encompasses compositions and methods for detecting cancer metastasis.
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.