1. Assessment of Tumor Heterogeneity, as Evidenced by Gene Expression Profiles, Pathway Activation, and Gene Copy Number, in Patients with Multifocal Invasive Lobular Breast Tumors
- Author
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Jennifer M. Carr, Edith A. Perez, Julia E. Crook, Bianca C. Axenfeld, Panos Z. Anastasiadis, Daniel J. Serie, Alvaro Moreno-Aspitia, Brian M. Necela, Jennifer M. Kachergus, Ryan W. Feathers, Pooja Advani, E. Aubrey Thompson, Nadine Norton, and Xochiquetzal J. Geiger
- Subjects
0301 basic medicine ,Pathology ,medicine.medical_treatment ,Gene Dosage ,lcsh:Medicine ,Gene Expression ,0302 clinical medicine ,Gene duplication ,Breast Tumors ,Medicine and Health Sciences ,Cyclin D1 ,Copy-number variation ,Breast ,RNA, Neoplasm ,Reproductive System Procedures ,lcsh:Science ,skin and connective tissue diseases ,Lymph node ,Mastectomy ,Staining ,Multidisciplinary ,DNA, Neoplasm ,medicine.anatomical_structure ,Oncology ,030220 oncology & carcinogenesis ,Invasive lobular carcinoma ,Lymphatic Metastasis ,Female ,Anatomy ,Research Article ,Adult ,medicine.medical_specialty ,Histology ,Breast Neoplasms ,Surgical and Invasive Medical Procedures ,Biology ,Research and Analysis Methods ,Gene dosage ,Carcinomas ,03 medical and health sciences ,Breast cancer ,Breast Cancer ,medicine ,Genetics ,Humans ,Molecular Biology Techniques ,Molecular Biology ,Surgical Excision ,Chromosomes, Human, Pair 11 ,lcsh:R ,Gene Mapping ,Gene Amplification ,Biology and Life Sciences ,Cancers and Neoplasms ,Chromosome Staining ,medicine.disease ,body regions ,Carcinoma, Lobular ,Reelin Protein ,030104 developmental biology ,Genetic Loci ,Specimen Preparation and Treatment ,Cancer research ,lcsh:Q ,Transcriptome - Abstract
Background Invasive lobular carcinoma (ILC) comprises approximately ~10–20% of breast cancers. In general, multifocal/multicentric (MF/MC) breast cancer has been associated with an increased rate of regional lymph node metastases. Tumor heterogeneity between foci represents a largely unstudied source of genomic variation in those rare patients with MF/MC ILC. Methods We characterized gene expression and copy number in 2 or more foci from 11 patients with MF/MC ILC (all ER+, HER2-) and adjacent normal tissue. RNA and DNA were extracted from 3x1.5mm cores from all foci. Gene expression (730 genes) and copy number (80 genes) were measured using Nanostring PanCancer and Cancer CNV panels. Linear mixed models were employed to compare expression in tumor versus normal samples from the same patient, and to assess heterogeneity (variability) in expression among multiple ILC within an individual. Results 35 and 34 genes were upregulated (FC>2) and down-regulated (FC
- Published
- 2015