The DOI matches its Crossref record; the references it cites are not checked yet.
Relapsed Classic E-Cadherin ( CDH1 )–Mutated Invasive Lobular Breast Cancer Shows a High Frequency of HER2 ( ERBB2 ) Gene Mutations
Published version of a preprint
Abstract
PURPOSE: We queried whether comprehensive genomic profiling using a next-generation sequencing-based assay could identify novel and unanticipated targets of therapy for patients with relapsed invasive lobular carcinoma (ILC). EXPERIMENTAL DESIGN: DNA sequencing (Illumina HiSeq 2000) was conducted for 3,320 exons of 182 cancer-related genes and 37 introns of 14 genes frequently rearranged in cancer on indexed, adaptor-ligated, hybridization-captured libraries using DNA isolated from formalin-fixed paraffin-embedded sections from 22 histologically verified ILC. RESULTS: A total of 75 genomic alterations were identified with an average of 3.4 alterations per tumor (range, 1-6), of which 35 were actionable for an average of 1.59 actionable alterations per patient (range, 0-3). Nineteen of 22 (86%) of the ILC samples harbored at least one actionable alteration. Six (27%) cases featured alterations in ERRB2 including 4 (18%) with ERBB2 mutation, 1 (5%) with an ERBB2 gene fusion, and 1 (5%) with an ERBB2 copy number gain (amplification). The enrichment of ERBB2 mutations/fusion in CDH1-mutated ILC (5 of 22, 23%) compared with the 5 ERBB2 mutations in a series of 286 non-CDH1-mutated breast cancers from which the ILC cases were obtained (5 of 286, 2%) was significant (P = 0.0006). CONCLUSIONS: Comprehensive genomic profiling of relapsed CDH1-mutated ILC revealed actionable genomic alterations in 86% of cases, featured a high incidence of ERBB2 alterations, and can reveal actionable alterations that can inform treatment decisions for patients with ILC.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
HER2 mutations have been found in a small proportion of lung, gastric, colorectal, breast and head and neck cancers.
“HER2 mutations have been found in a small proportion of lung, gastric, colorectal, breast and head and neck cancers (Lee et al., 2006; Ross et al., 2013; Stephens et al., 2004; Willmore-Payne et al., 2006).”
From ERBB Receptors: From Oncogene Discovery to Basic Science to Mechanism-Based Cancer Therapeutics (2014) · cites this paper as Ross et al., 2013
Citations
The citation lists haven’t been fetched yet
References 46 · Cited by 135
Research works printed but not linked: 1
- Wang, 2012, An evaluation of next-generation sequencing for diagnostic use in cancer care [abstract]. 2012 Meeting of Association of Molecular Pathology, J Mol Diagn, 14, 637
Metadata
- Authors
- Ross, J. S., Wang, K., Sheehan, C. E., Boguniewicz, A. B., Otto, G., Downing, S. R., Sun, J., He, J., Curran, J. A., Ali, S., Yelensky, R., Lipson, D., Palmer, G., Miller, V. A., & Stephens, P. J.
- Affiliations
- Albany Medical College (US)
- Corresponding author
- Ross, Jeffrey S.
- ORCID
- Venue
- Clinical Cancer Research
- Published
- 2013-05-12
- Volume
- 19
- Issue
- 10
- Pages
- 2668-2676
- ISSN
- 1078-0432 (ISSN-L)
- 1557-3265
- OpenAlex
- W2150089969
- Cited by
- 135
- References
- 46
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 5 · 2023: 9 · 2022: 12 · 2021: 14 · 2020: 7 · 2019: 9 · 2018: 10 · 2017: 11 · 2016: 19 · 2015: 18 · 2014: 5 · 2013: 8
- FWCI
- 8.92
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Cancer Research (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Oncology › HER2/EGFR in Cancer Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- invasive lobular carcinoma, CDH1 mutation, E-cadherin, HER2 mutation, ERBB2, breast cancer recurrence, actionable genomic alterations, ERBB2 amplification, comprehensive genomic profiling, targeted therapy
- MeSH terms
- Adult, Aged, Breast Neoplasms, Exons, Female, Histocytochemistry, Humans, Middle Aged, Mutation, Neoplasm Metastasis, Neoplasm Recurrence, Local, Cadherins, Paraffin Embedding, Tissue Fixation, Carcinoma, Ductal, Breast, Carcinoma, Lobular, Erb-b2 Receptor Tyrosine Kinases, High-Throughput Nucleotide Sequencing, Mutation Rate
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
