RET Variant Reclassification across Demographic Sub-Groups in a Large-Scale Clinical Population.

Kirkpatrick B Fergus¹, Marcy E Richardson², Elad Ziv³, Julie Ann Sosa¹, Elizabeth G Grubbs⁴

¹Department of Surgery, University of California-San Francisco (UCSF), San Francisco, California, USA.

²Ambry Genetics, Aliso Viejo, California, USA.

³Department of Medicine, Division of General Internal Medicine, University of California, San Francisco, San Francisco, California, USA.

⁴Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

PubMed DOI

Abstract

BACKGROUND: The expanded use of germline testing panels that include the RET proto-oncogene has identified many variants of uncertain significance (VUSs). It remains poorly understood how many RET VUSs are returned in clinical practice, how many are ultimately reclassified, and which patient populations are affected most. METHODS: We conducted a nationwide retrospective cohort study of individual…

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