Oops, you're using an old version of your browser so some of the features on this page may not be displaying properly.

MINIMAL Requirements: Google Chrome 24+Mozilla Firefox 20+Internet Explorer 11Opera 15–18Apple Safari 7SeaMonkey 2.15-2.23

Poster display

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


09 Oct 2016


Poster display


Hee-Chul Shin


Annals of Oncology (2016) 27 (6): 462-468. 10.1093/annonc/mdw385


H. Shin1, T. Yoo2, E. Lee3, H. Kee3, J. Han3, Y. Kim3, H. Moon3, D. Noh3, W. Han3

Author affiliations

  • 1 Department Of Surgery, Chung-Ang University Hospital, 156-755 - Seoul/KR
  • 2 Department Of Surgery, Seoul St. Mary's Hospital, of the Catholic University, Seoul/KR
  • 3 Department Of Surgery, Seoul National University Hospital, Seoul/KR


Abstract 863


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.

Clinical trial identification

Legal entity responsible for the study





All authors have declared no conflicts of interest.

This site uses cookies. Some of these cookies are essential, while others help us improve your experience by providing insights into how the site is being used.

For more detailed information on the cookies we use, please check our Privacy Policy.

Customise settings