Oncology/Research

Session # P-02

No nonsense: When a premature termination is not what it appears

1. DNA/RNA paired testing has added benefit for variant interpreation and patient management
2. Splice predictors and data (when available) should always be considered even when evaluating LoF alterations to avoid inccorect de facto classification
3. APC is challenging to interpret given the not-infrequent presentation of attenuated disease but further investigation is still warranted when multiple patients present without disease

  • Authors: Marcy Richardson, PhD; Jamie Weyandt, PhD; Colin Young, PhD; Nelly Abualkheir, MS; Elizabeth Chao; MD, FACMG
  • Conference: CGA-IGC 2022
  • Date: Friday, Nov 11, 2022 8:00am - 4:30pm

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