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

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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.

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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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Authors and Affiliations

  1. Division of Breast and Endocrine Surgery, Department of Surgery College of Medicine, University of Ulsan, Asan Medical Center, 388-1 Pungnap-dong, Songpa-gu, Seoul, 138-736, Korea

    Ja Young Cho, Sei Hyun Ahn, Jong Won Lee, Hee Jeong Kim, Jong Han Yu, Beom Seok Ko, Bo Kyung Ku & Byung Ho Son

  2. LabGenomics Clinical Research Institute, LabGenomics, Seongnam, Korea

    Dae-Yeon Cho, Su-Youn Choi & Inkyung Shin

  3. Department of Chemical and Biomolecular Engineering, KAIST, Daejeon, Korea

    Hyun Gyu Park

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  1. Ja Young Cho
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Correspondence to Byung Ho Son.

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Ja Young Cho and Dae-Yeon Cho have contributed equally to this work.

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Cho, J.Y., Cho, DY., Ahn, S.H. et al. Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea. Familial Cancer 13, 205–211 (2014). https://doi.org/10.1007/s10689-014-9704-9

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  • DOI: https://doi.org/10.1007/s10689-014-9704-9

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