Description of Invention: This invention relates to diagnostic and prognostic markers for melanoma. It discloses the identification of somatic mutations in genes of the microphthalmia-associated transcription factor (MITF) pathway in patients with melanoma.
Melanoma is an aggressive and often fatal cancer with increasing incidence worldwide. Previous studies have linked the MITF pathway to the progression of melanoma. However, little is known about somatic mutations in genes of the MITF pathway that contribute to the development and progression of melanoma. To assess the role of the MITF pathway in melanoma, NIH investigators evaluated primary and metastatic melanoma samples for the presence of somatic mutations in two genes of the MITF pathway, MITF and SRY (sex determining region Y)-box 10 (SOX10). They identified 16 previously unidentified somatic mutations in these genes. These studies suggest that MITF and SOX10 genes be used as diagnostic markers in human metastatic melanoma.
Applications:
Diagnosis and prognosis of patients with melanoma by detecting any mutations in the MITF or SOX10 gene.
Selection of therapy for melanoma patient; an MITF inhibitor can be selected for therapy if the patient has any of the disclosed mutations in MITF.
JC Cronin, J Wunderlich, SK Loftus, TD Prickett, X Wei, K Ridd, S Vemula, AS Burrell, NS Agrawal, JC Lin, CE Banister, P Buckhaults, SA Rosenberg, BC Bastian, WJ Pavan, Y Samuels. Frequent mutations in the MITF pathway in melanoma. Pigment Cell Melanoma Res. 2009 Apr 30 (Epub ahead of print). [ PubMed abs ]
Licensing Status: Available for licensing.
Collaborative Research Opportunity: The National Human Genome Research Institute's Cancer Genetics Branch is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize these newly identified candidate melanoma diagnostic and prognostic markers. Please contact NHGRI's Technology Development Coordinator (TDC) Claire T. Driscoll at cdriscol@mail.nih.gov for more information.
Portfolios: Cancer Cancer - Diagnostics
For Additional Information Please Contact: Betty Tong Ph.D. NIH Office of Technology Transfer 6011 Executive Blvd. Suite 325, Rockville, MD 20852 United States Email: tongb@mail.nih.gov Phone: 301-594-6565 Fax: 301-402-0220
Description of Invention:
This invention relates to diagnostic and prognostic markers for melanoma. It discloses the identification of somatic mutations in genes of the microphthalmia-associated transcription factor (MITF) pathway in patients with melanoma.
Melanoma is an aggressive and often fatal cancer with increasing incidence worldwide. Previous studies have linked the MITF pathway to the progression of melanoma. However, little is known about somatic mutations in genes of the MITF pathway that contribute to the development and progression of melanoma. To assess the role of the MITF pathway in melanoma, NIH investigators evaluated primary and metastatic melanoma samples for the presence of somatic mutations in two genes of the MITF pathway, MITF and SRY (sex determining region Y)-box 10 (SOX10). They identified 16 previously unidentified somatic mutations in these genes. These studies suggest that MITF and SOX10 genes be used as diagnostic markers in human metastatic melanoma.
Applications:
Inventors:
Yardena R Samuels (NHGRI)
Relevant Publication:
Licensing Status:
Available for licensing.
Collaborative Research Opportunity:
The National Human Genome Research Institute's Cancer Genetics Branch is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize these newly identified candidate melanoma diagnostic and prognostic markers. Please contact NHGRI's Technology Development Coordinator (TDC) Claire T. Driscoll at cdriscol@mail.nih.gov for more information.
Portfolios:
Cancer
Cancer - Diagnostics
For Additional Information Please Contact:
Betty Tong Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Email: tongb@mail.nih.gov
Phone: 301-594-6565
Fax: 301-402-0220
Ref No: 1957
Updated: 05/2009