1335P - Multigene panel testing for breast cancer patients at high risk for hereditary cancer

Date 09 October 2016
Event ESMO 2016 Congress
Session Poster display
Topics Breast Cancer
Cancer Aetiology, Epidemiology, Prevention
Familial Cancer
Presenter Hee-Chul Shin
Citation Annals of Oncology (2016) 27 (6): 462-468. 10.1093/annonc/mdw385
Authors H. Shin1, T. Yoo2, E. Lee3, H. Kee3, J. Han3, Y. Kim3, H. Moon3, D. Noh3, W. Han3
  • 1Department Of Surgery, Chung-Ang University Hospital, 156-755 - Seoul/KR
  • 2Department Of Surgery, Seoul St. Mary's Hospital, of the Catholic University, Seoul/KR
  • 3Department Of Surgery, Seoul National University Hospital, Seoul/KR



Next-generation sequencing and identification of additional cancer susceptible genes has made it feasible for patients at risk test for various hereditary cancer syndromes. We have evaluated the performance of a customized multi-gene panel test for hereditary cancer risk assessment in high-risk patients.


A total of 252 patients with multiple primary cancers or high-risk hereditary cancer were identified. Among them, 179 patients (71.0%) had multiple primary cancers, 27 patients (10.7%) were diagnosed bilateral breast cancer younger than 40 years old. Thirty-five patients (13.9%) had 2 ≥ breast cancer family history and 11 patients (4.4%) were very young (≤25 years old) breast cancer patients. Mutations annotated in dbSNP, clinVAR and Ensembl comparative genomic resources were analyzed and reviewed.


In the 65-gene panel test, pathogenic or likely-pathogenic mutations (PM) were identified in 78 (31.0%) patients. Frequency of all PM or likely-PM was 59%, 40%, 26%, and 9% in bilateral breast cancer with ≤ 40 years, breast cancer patients with 2 ≥ family history, multiple primary cancer, and breast cancer patients ≤ 25 years, respectively. The distribution of high-risk genes for hereditary cancer including CDH1, MLH1, MSH2, MSH6, MUTYH, PTEN, TP53, BRCA1, and BRCA2 were 55% in multiple primary cancer patients, 25% in bilateral breast cancer with ≤ 40 years, 18% in breast cancer patients with 2 ≥ family history, and 2% in very young (≤25 years old) breast cancer patients, respectively.


Using a 65-multigene panel test we have identified PMs, especially associated with hereditary cancer. We can use these results for detecting high-risk group of hereditary cancer in breast cancer patients.

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All authors have declared no conflicts of interest.