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Poster display

3512 - Clinical implication of PIK3CA activating mutation in ER + HER2+ breast cancer: Based upon explorative mutational analysis of Neo-ALL-IN study

Date

10 Oct 2016

Session

Poster display

Presenters

Ji Hyun Park

Citation

Annals of Oncology (2016) 27 (6): 68-99. 10.1093/annonc/mdw365

Authors

J.H. Park1, D. Kim2, J. Ahn1, J.E. Kim3, K.H. Jung4, G. Gong5, S. Ahn6, H.J. Lee5, B. Son6, H. Kim7, H.J. Shin7, D. Moon8, S. Ahn2, S. Kim9

Author affiliations

  • 1 Oncology, Asan Medical Center, University of Ulsan College of Medicine, 138-736 - Seoul/KR
  • 2 Center For Cancer Genome Discovery, Asan Medical Center, University of Ulsan College of Medicine, 138-736 - Seoul/KR
  • 3 Department Of Oncology, Asan Medical Center, University of Ulsan College of Medicine, Seoul/KR
  • 4 Department Of Oncology, Asan Medical Center, University of Ulsan College of Medicine, 05505 - Seoul/KR
  • 5 Department Of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul/KR
  • 6 Department Of Sugery, Asan Medical Center, University of Ulsan College of Medicine, 138-736 - Seoul/KR
  • 7 Department Of Radiology, Asan Medical Center, University of Ulsan College of Medicine, 138-736 - Seoul/KR
  • 8 Nuclear Medicine, Asan Medical Center, University of Ulsan College of Medicine, 138-736 - Seoul/KR
  • 9 Department Of Oncology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea, Seoul/ZA
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Abstract 3512

Background

Both ER + HER2+ breast cancer presents a heterogeneous biology, which is yet to be explored. Thus, using the cohort of our previous phase II study, we investigated their somatic mutation profile to find out the frequency and clinical implication.

Methods

Formalin-fixed paraffin-embedded (FFPE) tissue from 21 postmenopausal ER + HER2+ breast cancer patients were obtained from Asan Medical Center. The samples were sequenced by targeted capture sequencing with NGDx (coding sequence of 585 cancer-related genes + selected introns from 57 genes). Sequenced data were mapped to the reference human genome (hg19) using the Burrows-Wheeler Aligner, and were processed using publicly available Picard and the Genome Analysis Toolkit. Single nucleotide variant calls from MuTect were filtered against the dbSNP database to enrich for somatic mutations. Copy number alterations were detected by G + C normalization of read depth of coverage.

Results

Gene mutation ER + HER2+ breast cancer in TCGA Neo ALL- IN
PIK3CA 38.1% 66.7%
AA change/frequency AA change/frequency
Exon 9 (helical domain) E542K: 11% E545K: 16% Q546K: 1% Q546P:

Conclusions

Activating mutations in PIK3CA were abundantly found in postmenopausal ER + HER2+ breast cancer in our cohort. We carefully speculate that they might confer resistance to anti-HER-2 treatment combined with hormone therapy in neoadjuvant setting, and benefit of adding PI3K inhibitor should be considered in this subtype.

Clinical trial identification

NCT 01275859

Legal entity responsible for the study

N/A

Funding

N/A

Disclosure

All authors have declared no conflicts of interest.

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