What is the role of germline testing in the diagnosis of pancreatic cancer?

Updated: Jan 10, 2020
  • Author: Tomislav Dragovich, MD, PhD; Chief Editor: N Joseph Espat, MD, MS, FACS  more...
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Answer

Pancreatic cancer is associated with numerous hereditary syndromes and the results of germline testing can help guide treatment selection. Whole-exome sequencing has been shown to find genomic lesions that are theoretically actionable in almost 50% of tumors and to result in a change in clinical management in up to 30% of cases. Although the main driver mutation is KRAS, molecular profiling can identify numerous other potentially actionable mutations. [56]

The NCCN guidelines recommend that clinicians consider germline testing in any patient diagnosed with pancreatic cancer and consider a molecular analysis of tumors in those with metastatic disease. The NCCN panel has also strongly recommended somatic profiling of tumor tissue. [2]


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