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Article

Integrated approach to functional analysis of an ERBB2 variant of unknown significance detected by a cancer gene panel test.

Cellular oncology (Dordrecht, Netherlands) - 1 Feb 2022

Harada Yohei, Sato Akemi, Araki Mitsugu, Matsumoto Shigeyuki, Isaka Yuta, Sagae Yukari, Abe Tomonori, Aoyagi Yasuko, Sueoka Eisaburo, Okuno Yasushi, Kimura Shinya, Sueoka-Aragane Naoko

Abstract excerpt

PURPOSE: Dealing with variants of unknown significance (VUS) is an important issue in the clinical application of NGS-based cancer gene panel tests. We detected a novel ERBB2 extracellular domain VUS, c.1157A > G p.(E401G), in a cancer gene panel test. Since the mechanisms of activation by ERBB2 extracellular domain (ECD) variants are not fully understood, we aimed to clarify those mechanisms and the biological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 34997908
DOI: 10.1007/s13402-021-00656-3
PMCID: PMC8881279

Genes

ERBB2
ECD
EGFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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