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Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.

Stefan KlekBrandie H LeachAlex MilinovichYing NiJame AbrahamHaider MahdiBassam EstfanAlok A KhoranaBrian J BolwellPetros GrivasDavendra P S SohalPauline Funchain
Published in: JNCI cancer spectrum (2020)
Both review of tumor-only NGS by genetics and the institution of a process coordinating GC with oncology appointments increased the discovery of germline pathogenic variants from tumor-only NGS testing. Furthermore, this process identified germline pathogenic variant carriers who would not have otherwise met standard criteria for germline testing.
Keyphrases
  • dna repair
  • small molecule
  • copy number
  • gene expression
  • high throughput
  • oxidative stress
  • hepatitis c virus
  • tyrosine kinase
  • high resolution
  • mass spectrometry
  • hiv infected
  • simultaneous determination