학술논문
Comprehensive genomic characterization of HER2-low and HER2-0 breast cancer
Document Type
article
Author
Paolo Tarantino; Hersh Gupta; Melissa E. Hughes; Janet Files; Sarah Strauss; Gregory Kirkner; Anne-Marie Feeney; Yvonne Li; Ana C. Garrido-Castro; Romualdo Barroso-Sousa; Brittany L. Bychkovsky; Simona DiLascio; Lynette Sholl; Laura MacConaill; Neal Lindeman; Bruce E. Johnson; Matthew Meyerson; Rinath Jeselsohn; Xintao Qiu; Rong Li; Henry Long; Eric P. Winer; Deborah Dillon; Giuseppe Curigliano; Andrew D. Cherniack; Sara M. Tolaney; Nancy U. Lin
Source
Nature Communications, Vol 14, Iss 1, Pp 1-10 (2023)
Subject
Language
English
ISSN
2041-1723
Abstract
Abstract The molecular underpinnings of HER2-low and HER2-0 (IHC 0) breast tumors remain poorly defined. Using genomic findings from 1039 patients with HER2-negative metastatic breast cancer undergoing next-generation sequencing from 7/2013-12/2020, we compare results between HER2-low (n = 487, 47%) and HER2-0 tumors (n = 552, 53%). A significantly higher number of ERBB2 alleles (median copy count: 2.05) are observed among HER2-low tumors compared to HER2-0 (median copy count: 1.79; P = 2.36e-6), with HER2-0 tumors harboring a higher rate of ERBB2 hemideletions (31.1% vs. 14.5%). No other genomic alteration reaches significance after accounting for multiple hypothesis testing, and no significant differences in tumor mutational burden are observed between HER2-low and HER2-0 tumors (median: 7.26 mutations/megabase vs. 7.60 mutations/megabase, p = 0.24). Here, we show that the genomic landscape of HER2-low and HER2-0 tumors does not differ significantly, apart from a higher ERBB2 copy count among HER2-low tumors, and a higher rate of ERBB2 hemideletions in HER2-0 tumors.