OBJECTIVES: To investigate and analyze the BRCA mutations in Korean ovarian 
cancer patients with or without family history and to find founder mutations in 
this group.
METHODS/MATERIALS: One hundred two patients who underwent a staging operation 
for pathologically proven epithelial cancer between January 2013 and December 
2014 were enrolled. Thirty-two patients declined to analyze BRCA1/2 gene 
alterations after genetic counseling and pedigree analysis. Lymphocyte specimens 
from peripheral blood were assessed for BRCA1/2 by direct sequencing.
RESULTS: BRCA genetic test results of 70 patients were available. Eighteen 
BRCA1/2 mutations and 17 unclassified variations (UVs) were found. Five of the 
BRCA1/2 mutations and 4 of the UVs were not reported in the Breast Cancer 
Information Core database. One BRCA2 UV (8665_8667delGGA) was strongly 
suspicious to be a deleterious mutation. BRCA1/2 mutations were identified in 11 
(61.1%) of 18 patients with a family history and in 7 (13.5%) of 52 patients 
without a family history.Candidates for founder mutations in Korean ovarian 
cancer patients were assessed among 39 BRCA1/2 mutations from the present study 
and from literature reviews. The analysis showed that 1041_1043delAGCinsT (n = 
4; 10.2%) and 3746insA (n = 4; 10.2%) were possible BRCA1 founder mutations. 
Only one of the BRCA2 mutations (5804_5807delTTAA) was repeated twice (n = 2; 
5.1%).
CONCLUSIONS: The prevalence of BRCA1/2 mutations in Korean ovarian cancer 
patients irrespective of the family history was significantly higher than 
previously reported. Possible founder mutations in Korean ovarian cancer 
patients were identified.