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Our understanding of the nature of cancer has rapidly accelerated due to an explosion of knowledge directly obtained from high throughput, next generation sequencing studies. NGS adds many opportunities, as well as, many challenges to genetic cancer risk assessment. In this webinar, Dr. Robert Ohgami will present a case study highlighting hematopoietic diseases B-cell lymphomas and demonstrate how such in depth studies can yield definitive and transformative findings regarding the pathogenesis and categorization of disease. He will further highlight the importance of appropriate and correct variant calling and annotation of mutations in these studies. In addition, Dr. Thomas Slavin will review examples of incidental test findings, challenges in interpretation of low and moderate penetrance genes in clinical care, and discuss empiric risk as it applies to uninformative testing. |
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