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Biomarker: Diagnosis and Treatment of Ovarian Cancer from Reduced SMARCA4 (BRG1) Expression/Function

SK2013-084

SUMMARY OF INVENTION

SMARCA4 (also known as BRG1) is a catalytic subunit of the SWI/SNF chromatin remodeling complex, which has a significant role in the regulation of gene expression. Alterations in the SWI/SNF complex, and in particular the loss of SMARCA4 expression, are well documented in a number of cancers. MSK investigators discovered that mutations in the SMARCA4 gene which reduce or eliminate SMARCA4 gene expression and/or protein levels and function are linked to certain cancers – more specifically, ovarian cancers, and in particular small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Furthermore, restoration of SMARCA4 gene expression and/or protein levels and functionality has been shown to suppress cell growth, which provides a potential avenue for therapeutic development.

SCCOHT is a rare, highly-aggressive form of ovarian cancer seen primarily in younger patients, and it has extremely low survival rates for later-stage disease when it has spread beyond the ovary.  Since SCCOHT presents a difficult histological classification, the presence of a SMARCA4 mutation has started being used clinically to prognosticate risk of malignancy, confirm or exclude diagnosis of SCCOHT in a patient, and help identify appropriate treatment.

ADVANTAGES

  • SCOOHT currently has a very poor prognosis for later-stage disease, and this biomarker identifies patients early on to enable optimal treatment regimens from the start.
  • This biomarker also lends itself to the development of therapies which restore SMARCA4 expression and/or functionality, which may include drug classes such as EZH2 and PARP inhibitors.

MARKET OPPORTUNITIES

An estimated 24,500 women per year in the United States will be diagnosed with ovarian cancer, with a small percentage of those being SCCOHT patients facing poor prognosis. This biomarker test has started being used clinically to identify at-risk patients at an earlier stage, and it may additionally offer significant value in facilitating the development of therapeutic agents that specifically address the SMARCA4 mutation.

PUBLICATIONS

  • Jelinic P, et al. (2014) Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. Nature Genetics (PubMed link)

AREAS OF APPLICATION

Diagnostic, biomarker, SMARCA4-driven ovarian cancer, SCCOHT

STAGE OF DEVELOPMENT

Ready to use

PATENT INFORMATION

United States national application filed/published, US 15/109,403

LEAD INVESTIGATOR

Douglas A. Levine, MD, Former Laboratory Head at MSK

CONTACT INFORMATION

Jesse Baumgartner, CFA

Licensing Manager
Tel: 646-888-1081
E-mail: baumgarj@mskcc.org

Stage of Development

Ready to use

Indications