18P - Mutation analysis for BRIP1 in Korean patients with BRCA1/2 mutations-negative high-risk breast cancer

Date 08 May 2014
Event IMPAKT 2014
Session Welcome reception and Poster Walk
Topics Breast Cancer
Cancer Aetiology, Epidemiology, Prevention
Pathology/Molecular Biology
Presenter Haeyoung Kim
Citation Annals of Oncology (2014) 25 (suppl_1): i5-i7. 10.1093/annonc/mdu065
Authors H. Kim1, D. Cho2, D.H. Choi3, W. Park3, S.J. Huh3
  • 1Department Of Radiation Oncology, Hallym University Dongtan Sacred Heart Hospital, 445907 - Hwaseong/KR
  • 2Research, LabGenomics Clinical Research Institute, Seongnam/KR
  • 3Department Of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul/KR



Germline mutations in BRCA1 and BRCA2 (BRCA1/2) account for about 20% of hereditary breast cancer (HBC) in Korean patients. Other genes likely account for the remaining non-BRCA1/2-mutated HBC patients. BRIP1 encodes a BRCA1-interacting protein and functions in DNA damage repair. Mutation in BRIP1 is reported in various ethnic patients with HBC. However, there is a paucity of data on the contribution of BRIP1 to Korean patients. The current study was aimed at assessing the spectrum of genetic variation in BRIP1 gene among high-risk Korean breast cancer patients who tested negative for BRCA1/2 mutation.

Materials and methods:

Overall, 235 Korean patients with BRCA1/2 mutation-negative high-risk HBC were screened for BRIP1 mutation. The entire BRIP1 gene was analyzed using fluorescent-conformation sensitive gel electrophoresis. High-risk HBC patients were defined as patients with family history of breast or ovarian cancer in any relatives, patients with breast cancer that develops before age of 40 years, or patients with bilateral breast cancer.


16 patients showed sequence variation in the BRIP1 gene. The novel truncating mutation 1018C > T was detected in one patient and 8 missense mutations were identified in 15 individuals. Among the missense mutations, 5 (787C > T, 1421T > C, 1442G > A, 2543G > A, and 2854A > G) were novel and 3 (430G > A, 587A > G, and 2830C > G) were previously described.


Protein-truncating mutation in the BRIP1 gene was infrequently found in Korean BRCA1/2 mutation-negative HBC patients. Further research will be required to clarify a role of the variants in BRIP1 gene in predisposition to HBC.


All authors have declared no conflicts of interest.