Ciriello Giovanni, Gatza Michael L, Beck Andrew H, Wilkerson Matthew D, Rhie Suhn K, Pastore Alessandro, Zhang Hailei, McLellan Michael, Yau Christina, Kandoth Cyriac, Bowlby Reanne, Shen Hui, Hayat Sikander, Fieldhouse Robert, Lester Susan C, Tse Gary M K, Factor Rachel E, Collins Laura C, Allison Kimberly H, Chen Yunn-Yi, Jensen Kristin, Johnson Nicole B, Oesterreich Steffi, Mills Gordon B, Cherniack Andrew D, Robertson Gordon, Benz Christopher, Sander Chris, Laird Peter W, Hoadley Katherine A, King Tari A, Perou Charles M
Department of Medical Genetics, University of Lausanne (UNIL), 1011 Lausanne, Switzerland; Computational Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.
Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA; Rutgers Cancer Institute of New Jersey, New Brunswick, NJ 08903, USA.
Cell. 2015 Oct 8;163(2):506-19. doi: 10.1016/j.cell.2015.09.033.
Invasive lobular carcinoma (ILC) is the second most prevalent histologic subtype of invasive breast cancer. Here, we comprehensively profiled 817 breast tumors, including 127 ILC, 490 ductal (IDC), and 88 mixed IDC/ILC. Besides E-cadherin loss, the best known ILC genetic hallmark, we identified mutations targeting PTEN, TBX3, and FOXA1 as ILC enriched features. PTEN loss associated with increased AKT phosphorylation, which was highest in ILC among all breast cancer subtypes. Spatially clustered FOXA1 mutations correlated with increased FOXA1 expression and activity. Conversely, GATA3 mutations and high expression characterized luminal A IDC, suggesting differential modulation of ER activity in ILC and IDC. Proliferation and immune-related signatures determined three ILC transcriptional subtypes associated with survival differences. Mixed IDC/ILC cases were molecularly classified as ILC-like and IDC-like revealing no true hybrid features. This multidimensional molecular atlas sheds new light on the genetic bases of ILC and provides potential clinical options.
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