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JAX Frontend Platform

Case: Variant of Uncertain Significance

TG is a 79 yo woman diagnosed with colon cancer, with a large tumor in the right lobe of her liver. Following initial surgery, she was treated with FOLFOX which was discontinued after initial response due to toxicity. She is currently being treated with irinotecan and panitumumab. Genomic tumor testing was ordered to identify potential therapeutic targets.

Results from ActionSeq:

  • Actionable variants (Tier I): none
  • Variants of unknown clinical significance (Tier III): ERBB2 A386D

What is the meaning of TG’s variant for her future treatment?

A. The variant is driving tumor growth, but we don’t yet have targeted therapies for the variant. B. There is not enough information to know whether the variant is relevant for tumor growth. C. A variant of unknown clinical significance is a marker of poor prognosis. D. TG should not proceed with any treatment until the significance of the variant is clarified.

About

This resource was developed as part of the Maine Cancer Genomics Initiative (MCGI) and is supported by The Harold Alfond Foundation and The Jackson Laboratory. 

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