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Breast cancer, metastatic

2247 - Comprehensive Genomic Profiling of Primary and Metastatic CDH1 Mutated Classic and Pleomorphic Invasive Lobular Breast Carcinomas Reveals Markers of Hormonal Therapy Resistance and Opportunities for Targeted Therapies


10 Sep 2017


Breast cancer, metastatic


Jeffrey Ross


Annals of Oncology (2017) 28 (suppl_5): v74-v108. 10.1093/annonc/mdx365


J.S. Ross1, L.M. Gay2, J.A. Elvin3, J. Suh3, J. Vergilio3, S. Ramkissoon3, E. Severson3, S. Daniel3, G.M. Frampton3, D. Fabrizio3, A.B. Schrock4, S.M. Ali3, V.A. Miller3, P. Stephens5, J. Chung2

Author affiliations

  • 1 Pathology, Albany Medical Center, 12208 - Albany/US
  • 2 Pathology, Foundation Medicine, 02141 - Cambridge/US
  • 3 R & D, Foundation Medicine, 02141 - Cambridge/US
  • 4 Clinical Development, Foundation Medicine, MA 02141 - Cambridge/US
  • 5 R & D, Foundation Medicine, MA 02141 - Cambridge/US


Abstract 2247


Although invasive lobular breast cancer (ILC) is typically combined with the far more frequent ductal disease for clinical trials and research studies. We queried whether classic (CILC) and its uncommon pleomorphic variant (PILC) featured unique genomic alterations (GA) which could influence therapy for patients with relapsed and refractory disease.


From a series of 10,784 invasive breast carcinomas DNA was extracted from 40 µm of FFPE sections of 454 (4%) CDH1 mutated ILC including 428 classic (CILC) (94%) and 26 pleomorphic (PILC) (6%) subtypes. CGP was performed on hybridization-captured, adaptor ligation-based libraries (mean coverage depth >600X) for up to 315 cancer-related genes. Total mutational burden (TMB) was determined on 1.2 Mbp of sequenced DNA.


Median age at 63 years was similar for both CILC and PILC (see Table). Clincal ER+ status (p) was higher in CILC and HER2+ status was higher in PILC (P 


Both CILC and PILC show differences in GA in pre-treatment primary vs metastatic lesions in important genes such as ESR1 and ERBB2 likely reflecting the impact of primary therapies. Relapsed CILC is more often driven by ESR1 GA and PILC by ERBB2 GA. Both the CILC and PILC groups have subsets with high TMB, more frequent in PILC, indicating potential for immunotherapies for these patients.

Clinical trial identification

Legal entity responsible for the study

Jeffrey S Ross




J.S. Ross, V.A. Miller, P. Stephens: Employee, leader and owns stock in Foundation Medicine. L.M. Gay, J.A. Elvin, J-A. Vergilio, S. Ramkissoon, E. Severson, S. Daniel, G.M. Frampton, D. Fabrizio, A.B. Schrock, S.M. Ali, J. Chung, J. Suh: Employee and owns stock in Foundation Medicine.

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