Genomic Characterization of Primary Invasive Lobular Breast Cancer
Top Cited Papers
- 1 June 2016
- journal article
- research article
- Published by American Society of Clinical Oncology (ASCO) in Journal of Clinical Oncology
- Vol. 34 (16), 1872-1881
- https://doi.org/10.1200/jco.2015.64.0334
Abstract
PurposeInvasive lobular breast cancer (ILBC) is the second most common histologic subtype after invasive ductal breast cancer (IDBC). Despite clinical and pathologic differences, ILBC is still treated as IDBC. We aimed to identify genomic alterations in ILBC with potential clinical implications.MethodsFrom an initial 630 ILBC primary tumors, we interrogated oncogenic substitutions and insertions and deletions of 360 cancer genes and genome-wide copy number aberrations in 413 and 170 ILBC samples, respectively, and correlated those findings with clinicopathologic and outcome features.ResultsBesides the high mutation frequency of CDH1 in 65% of tumors, alterations in one of the three key genes of the phosphatidylinositol 3-kinase pathway, PIK3CA, PTEN, and AKT1, were present in more than one-half of the cases. HER2 and HER3 were mutated in 5.1% and 3.6% of the tumors, with most of these mutations having a proven role in activating the human epidermal growth factor receptor/ERBB pathway. Mutations in FOXA1 a...Keywords
This publication has 32 references indexed in Scilit:
- Abstract S2-06: Survival advantage of anastrozol compared to tamoxifen for lobular breast cancer in the ABCSG-8 studyCancer Research, 2015
- Uncovering the genomic heterogeneity of multifocal breast cancerThe Journal of Pathology, 2015
- Invasive lobular breast cancer and its variants: How special are they for systemic therapy decisions?Critical Reviews in Oncology/Hematology, 2014
- New concepts in breast cancer genomics and geneticsBreast Cancer Research, 2014
- Abstract S1-1: Relative effectiveness of letrozole compared with tamoxifen for patients with lobular carcinoma in the BIG 1-98 trial.Published by American Association for Cancer Research (AACR) ,2012
- Genomic grade adds prognostic value in invasive lobular carcinomaAnnals Of Oncology, 2012
- Absolute quantification of somatic DNA alterations in human cancerNature Biotechnology, 2012
- Invasive lobular breast cancer: subtypes and outcomeBreast Cancer Research and Treatment, 2012
- Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinomaNature, 2011
- Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short readsBioinformatics, 2009