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01.06.2014 | Original Article

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

verfasst von: 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 Son

Erschienen in: Familial Cancer | Ausgabe 2/2014

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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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Titel: Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea
verfasst von: 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 Son
Publikationsdatum: 01.06.2014
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 2/2014
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-014-9704-9

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Abstract

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