作者: Zheng Ping , Gene P. Siegal , Shuko Harada , Isam-Eldin Eltoum , Mariam Youssef
DOI: 10.18632/ONCOTARGET.13019
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摘要: // Zheng Ping 1 , Gene P. Siegal 1, 6 Shuko Harada Isam-Eldin Eltoum Mariam Youssef Tiansheng Shen Jianbo He 3 Yingjie Huang 7 Dongquan Chen 4, Yiping Li 2, Kirby I Bland 5, Helena R Chang 8 Dejun Division of Anatomic Pathology, University Alabama at Birmingham, AL, USA 2 Cell and Molecular Departments Hematology/Oncology, Department Medicine, 4 Preventive 5 Surgical Oncology, Surgery, UAB Comprehensive Cancer Center, Ningbo Clinical Pathological Diagnosis Ningbo, Zhejiang, China Revlon/UCLA Breast California Los Angeles, David Geffen School CA, Correspondence to: Shen, email: dshen@uabmc.edu Keywords: invasive lobular carcinoma, CDH1 mutation, ERBB2 genomics, TCGA Received: September 09, 2016 Accepted: October 24, Published: November 02, 2016 ABSTRACT E-cadherin ( ) is a glycoprotein that mediates adhesion between epithelial cells also suppresses cancer invasion. Mutation or deletion the gene has been reported in 30–60% cases carcinoma (ILC). However, little known about genomic differences ILC with without alteration. Therefore, we analyzed whole genome sequencing data 169 from The Genome Atlas (TCGA) to address this deficiency. Our study shows was altered 59.2% (100/169) ILC. No significant difference identified -altered -unaltered for any examined demographic, clinical pathologic characteristics, including histologic grade, tumor stage, lymph node metastases, ER/PR/HER2 states. Seven recurrent mutations PTEN MUC16 FAT4 PCDHGA2 HERC1 FLNC four chromosomal changes copy number variation (CNV) (11q13, 17q12-21, 8p11 8q11) were found ILC, which correlated positive negative alteration status, respectively. prevalence most common breast driver abnormalities TP53 PIK3CA MYC amplifications showed no two groups. an mutation significantly worse prognosis compared its counterparts such mutation. suggests patients may represent actionable group who could benefit targeted therapy.