Institutional members access full text with Ovid®

Share this article on:

Analysis of PIK3CA Mutations in Breast Cancer Subtypes

Arsenic, Ruza MD*; Lehmann, Annika MD*; Budczies, Jan MD*; Koch, Ines*; Prinzler, Judith*; Kleine-Tebbe, Anke MD; Schewe, Christiane MD*; Loibl, Sibylle MD; Dietel, Manfred MD*; Denkert, Carsten MD*

Applied Immunohistochemistry & Molecular Morphology: January 2014 - Volume 22 - Issue 1 - p 50–56
doi: 10.1097/PDM.0b013e318297afea
Research Articles

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α (PIK3CA) is a central element of a signaling pathway involved in cell proliferation, survival, and growth. Certain mutations in this pathway result in enhanced PI3K signaling, which is associated with oncogenic cellular transformation and cancer. The aims of this study were to characterize different types of PIK3CA mutations in exons 9 and 20 in a series of primary breast carcinomas and to correlate the results with clinicopathologic parameters and survival. We used frozen tissue samples and sequenced exons 9 and 20 for a series of 241 patients with a diagnosis of breast carcinoma. We found that 15.8% of the primary breast carcinomas possessed PIK3CA mutations in either exon 9 or exon 20. The rate of PIK3CA mutations was increased in HR+/HER2 tumors (18.6%), but this difference did not reach a statistical significance. The lowest rate of mutations was observed in HR+/HER2+ tumors (5.3%). No statistically significant association was found between the presence of PIK3CA mutations and the prognostic/clinical features of breast cancer, including histologic subtype, Her2 status, axillary lymph node involvement, tumor grade, and tumor stage. However, the presence of the H1047R mutation in 10 samples was associated with a statistically significantly worse overall survival. PIK3CA mutation was found to be a frequent genetic change in all breast cancer subtypes but occurred with the highest rate in HR+/HER2 tumors. Further studies are needed to validate the prognostic impact of different PIK3CA mutations.

*Institute of Pathology Charité, University Hospital Berlin

Breast Cancer Center, DRK Klinikum Köpenick, Berlin

German Breast Group, Neu-Isenburg, Germany

Supported by the University research budget.

The authors declare no conflict of interest.

Reprints: Ruza Arsenic, MD, Institute of Pathology Charité, University Hospital Berlin, Berlin 10117, Germany (e-mail:

© 2014 Lippincott Williams & Wilkins, Inc.