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Germline Mutations of BRCA1 and BRCA2 in Korean Ovarian Cancer Patients: Finding Founder Mutations
  1. Min Chul Choi, MD*,
  2. Jin-Hyung Heo, MD,
  3. Ja-Hyun Jang, MD, PhD,
  4. Sang Geun Jung, MD, PhD*,
  5. Hyun Park, MD, PhD*,
  6. Won Duk Joo, MD, PhD*,
  7. Chan Lee, MD, PhD*,
  8. Je Ho Lee, MD, PhD*,
  9. Jun Mo Lee, MD, PhD*,
  10. Yoon Young Hwang, MD, PhD* and
  11. Seung Jo Kim, MD, PhD*
  1. *Comprehensive Gynecologic Cancer Center, Departments of Obstetrics and Gynecology and
  2. Pathology, CHA Bundang Medical Center, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea; and
  3. GreenCross Laboratories, Yongin City, Republic of Korea.
  1. Address correspondence and reprint requests to Jun Mo Lee, MD, PhD, CHA Bundang Medical Center, Yatap-dong, Bundang-gu, Seongnam-si, Gyeonggi-do 463-712, Republic of Korea. E-mail:


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.

  • BRCA mutation
  • Korean ovarian cancer
  • Founder mutation

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  • The authors declare no conflicts of interest.