Citations 1

Two In Cis Variants—Two Worlds Apart

The Oncologist | August 18, 2021 | Volume: 26 | Issue: 12 | Pages: 997-999

10.1002/onco.13946 | PMID 34407276

Abstract Precision oncology emphasizes genotyping as one of the mainstays of oncological decision-making. The core information element exchanged between the laboratory and the oncologist is the precise mutation. Specifically, it is the written representation typically in the form of a variant description at the DNA or protein level. These annotations can be confusing, and many commercial laboratories have abandoned DNA-level annotations. Here we present a complex double-point mutation to illustrate a situation where a formally “correct” reporting nomenclature can obscure clinically relevant and potentially clinically actionable information. Key Points