A Functional Assay Distinguishing Pathogenic and Nonpathogenic Variant Alleles of the BRCA2 Gene

Some inherited mutations that inactivate BRCA2 and cause a high familial risk of breast, ovarian, and pancreatic cancer are common in the population. Other mutations are less frequent and referred to as Variants of Unknown Clinical Significance (VUCS). These individual gene mutations are uncharacterized with regard to their effect on gene function, the risk of cancer development and penetrance of the cancer phenotype. As a result, clinicians have difficulty in providing the patient the appropriate genetic counseling, and have uncertainty over which mode of prophylaxis or treatment should be followed. Now, scientists at JHU have designed a novel biological assay that enables the assessment of unknown variants in a laboratory setting for their likelihood of pathogenicity. The cell based assay will allow for the assessment of cancer risk on a continuous numerical scale with statistical analysis. Description (Set) Proposed Use (Set) Assays to determine the functional relevance of individual genetic mutations is a solid move forward for personalized medicine. The functional assay described herein may be used by genetics testing companies to improve the clinical utility of their genetic test, or by academic groups studying familial breast and ovarian cancer. The tangible biological materials that will be created through this assay, the variant BRCA2 cell lines, may also be useful for pharmaceutical companies screening for novel compounds or conducting clinical trials of anticancer therapy.

Inventor(s): Kern, Scott

Type of Offer: Licensing



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