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Familial Cancer

, Volume 13, Issue 2, pp 205–211 | Cite as

Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea

  • Ja Young Cho
  • Dae-Yeon Cho
  • Sei Hyun Ahn
  • Su-Youn Choi
  • Inkyung Shin
  • Hyun Gyu Park
  • Jong Won Lee
  • Hee Jeong Kim
  • Jong Han Yu
  • Beom Seok Ko
  • Bo Kyung Ku
  • Byung Ho SonEmail author
Original Article

Abstract

We screened large genomic rearrangements of the BRCA1 and BRCA2 genes in Korean, familial breast cancer patients. Multiplex ligation-dependent probe amplification assay was used to identify BRCA1 and BRCA2 genomic rearrangements in 226 Korean familial breast cancer patients with risk factors for BRCA1 and BRCA2 mutations, who previously tested negative for point mutations in the two genes. We identified only one large deletion (c.4186-1593_4676-1465del) in BRCA1. No large rearrangements were found in BRCA2. Our result indicates that large genomic rearrangement in the BRCA1 and BRCA2 genes does not seem like a major determinant of breast cancer susceptibility in the Korean population. A large-scale study needs to validate our result in Korea.

Keywords

BRCA1 BRCA2 Hereditary breast cancer Korean population Large genomic rearrangement 

Notes

Acknowledgments

This study was supported by a grant from the Industrial Strategic Technology Development Program funded by the Ministry of Knowledge Economy (#10038662), Republic of Korea, and a Grant (09-364) from the Asan Institute for Life Sciences, Seoul, Korea.

Conflict of interest

The authors have no competing financial interests or conflicts of interest to declare.

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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Ja Young Cho
    • 1
  • Dae-Yeon Cho
    • 2
  • Sei Hyun Ahn
    • 1
  • Su-Youn Choi
    • 2
  • Inkyung Shin
    • 2
  • Hyun Gyu Park
    • 3
  • Jong Won Lee
    • 1
  • Hee Jeong Kim
    • 1
  • Jong Han Yu
    • 1
  • Beom Seok Ko
    • 1
  • Bo Kyung Ku
    • 1
  • Byung Ho Son
    • 1
    Email author
  1. 1.Division of Breast and Endocrine Surgery, Department of Surgery College of Medicine, University of UlsanAsan Medical CenterSeoulKorea
  2. 2.LabGenomics Clinical Research InstituteLabGenomicsSeongnamKorea
  3. 3.Department of Chemical and Biomolecular EngineeringKAISTDaejeonKorea

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