Diagnostics and Assays

The following Diagnostics and Assays are currently available for licensing from OTAM:

• Prognostic Assay for Breast Cancer
• Five Unique Genetic Variants that Predict Prostate Cancer Risk
• Genetic Polymorphisms that contribute to Variations in Prostate Specific Antigen (PSA)

Prognostic Assay for Breast Cancer

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INVENTORS: Dr. Frank Torti, Dr. Suzy Torti, and Dr. Lance Miller

Researchers at Wake Forest School of Medicine have developed an extraordinary 2-gene based assay for breast cancer prognosis. The assay can identify patients from a clinical subset (ER+) of breast cancer who could be spared overly aggressive and toxic treatments. The survival value predicted by the 2-gene signature (n=518, 10 year survival=89%) is comparable to that of ER+/node negative patients classified into good outcome group by the Oncotype Dx 21-gene panel and better than Mammaprint 70-gene (n=151, 10 year survival=87%). The assay is independent of other important outcome predictors used in the clinic such as tumor size, grade and age. In addition, it can predict the metastasis-free survival of breast cancer patients even in lymph node positive patients, unlike Mammaprint and Oncotype Dx. 

Breast cancer is the most common cancer among American women, except for skin cancers. The chance of developing invasive breast cancer at some time in a woman's life is a little less than 1 in 8 (12%). About 192,370 new cases of invasive breast cancer will be diagnosed in women in 2009. Breast cancer patients may be treated with adjuvant tamoxifan monotherapy or adjuvant chemotherapy which is highly toxic to patients . This assay can be used to identify patients  who could be spared toxic adjuvant chemotherapy.

Commercial Applications

• Microarray based/high-throughput technology
• Assay score used as a prognostic indicator
• Adds significant prognostic and predictive information to standard outcome parameters of breast cancer
• Treatment decision: Tamoxifen monotherapy or Tamoxifan plus chemotherapy for ER+ patients

Additional Information
Sci Transl Med 4 August 2010: Vol. 2, Issue 43, p. 43

Licensing Contact 

Stephen J. Susalka, Ph.D.
Assistant Director
Email: ssusalka@wakehealth.edu
Phone: (336) 716-3729 

Five Unique Genetic Variants that Predict Prostate Cancer Risk

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Inventors : Dr Jianfeng Xu , Dr William B Isaacs and Dr Henrik Gronberg

Researchers from Wake Forest University, Johns Hopkins University and  Karolinska Institute have discovered five unique single nucleotide polymorphisms (SNPs) that when combined can predict Prostate cancer risk in men.
Prostate cancer is the most frequently diagnosed malignancy in men and the second leading cause of cancer death. More than 650,000 men are diagnosed with prostate cancer worldwide every year. The Prostate Specific Antigen test is the only current test used to predict prostate cancer. The accuracy of PSA testing is debatable since 50% of patients who test positive undergo unnecessary prostatectomy surgery. The use of genetic markers to predict prostate cancer risk along with PSA values will significantly reduce the number of surgeries and improve the quality of life of patients.

Diagnostic Applications

• First unique 5 SNP panel that predicts prostate cancer risk
• Men who have five or more of the six factors associated with prostate cancer (specific genotypes at five SNPs and a positive family history for the disease) have an odds ratio of 9.46 for prostate cancer
• SNP’s have been validated in multiple populations from Sweden and the United States
• This will be the first test of its kind that can identify men at an elevated risk for Prostate Cancer

Additional Information
N ENGL J MED. 2008; 358:910-9

Genetic Polymorphisms that contribute to Variations in Prostate Specific Antigen (PSA)

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Scientists at Wake Forest University have identified unique polymorphisms that contribute to variations in PSA. Use of PSA testing in prostate cancer screening has been limited by its lack of sensitivity and specificity. Individuals that have a genetic susceptibility to elevated PSA undergo unwarranted biopsies. Genotyping men with elevated PSA for the unique 4 SNP panel will provide a noninvasive test to determine patients that need further testing for prostate cancer. PSA testing is over a billion dollars in sales, confirmation of tests with the unique polymorphisms test will improve sensitivity and specificity of PSA.

Diagnostic Applications

• First unique 4 SNP panel that predicts variations in PSA
• SNPs have been validated in large patient populations
• This will be the first test of its kind that can identify men that are susceptible to elevated PSA levels

Additional Information
Cramer SD et al , J Natl Cancer Inst. 2003 Jul 16;95(14):1027-8.