Open AccessTwo In Cis Variants—Two Worlds Apart
Author(s) -
Lo YingChun,
Narayan Rupa,
Nardi Valentina,
Lennerz Jochen K.
Publication year - 2021
Publication title -
the oncologist
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.176
H-Index - 164
eISSN - 1549-490X
pISSN - 1083-7159
DOI - 10.1002/onco.13946
Subject(s) - medicine , genotyping , key (lock) , representation (politics) , precision oncology , computational biology , point mutation , core (optical fiber) , mutation , point (geometry) , information retrieval , genetics , computer science , precision medicine , pathology , biology , genotype , gene , telecommunications , geometry , computer security , mathematics , politics , political science , law
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 The Human Genome Variation Society (HGVS) currently recommends that “two variants separated by one or more nucleotides should be described individually and not as a combined ‘delins’ (deletion‐inserion).” There remains confusion about the appropriate nomenclature to report variants and the significance of these variants among clinicians. It is the clinically integrated molecular‐genetic interpretation that will help clinicians make informed decisions to improve patient care.