Breast Invasive Carcinoma

Giovanni Ciriello, Michael L Gatza, Andrew H Beck, Matthew D Wilkerson, Suhn K Rhie , Alessandro Pastore, Hailei Zhang, Michael McLellan, Christina Yau, Cyriac Kandoth, Reanne Bowlby, Hui Shen, Sikander Hayat, Robert Fieldhouse, Susan C Lester, Gary M K Tse, Rachel E Factor, Laura C Collins , Kimberly H Allison , Yunn-Yi Chen, Kristin Jensen , Nicole B Johnson, Steffi Oesterreich , Gordon B Mills , Andrew D Cherniack … & Charles M Perou
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...
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