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Erschienen in: Familial Cancer 4/2009

01.12.2009

Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population

verfasst von: Moon-Woo Seong, Sung Im Cho, Dong-Young Noh, Wonshik Han, Sung-Won Kim, Chul-Min Park, Hyun-Woong Park, So Yeon Kim, Ji Yeon Kim, Sung Sup Park

Erschienen in: Familial Cancer | Ausgabe 4/2009

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Abstract

Genomic rearrangement occasionally affects the BRCA1/2 genes in Caucasian breast cancer patients. However, the incidence of BRCA1/2 genomic rearrangement in Asians, including the Korean population, has not been well established. Here, we investigated the contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer patients in this population. We screened for BRCA1/2 genomic rearrangement using multiplex ligation-dependent probe amplification for 122 high-risk breast cancer patients who tested negative for BRCA1/2 mutations. A novel deletion of exons 13–15 in BRCA1 was identified in one patient (0.8% occurrence frequency). Further analyses revealed that this c.4186-1593_4676-1465del might be the result of homologous recombination mediated by two Alu-elements: the AluY in intron 12, and an AluSp in intron 15. This result suggests that subsequent screening for BRCA1/2 genomic rearrangements should be considered in high-risk Korean breast cancer patients who test negative for BRCA1/2 mutations. BRCA1/2 genomic rearrangement, however, is likely to make only a small contribution to breast cancer in this population.
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Metadaten
Titel
Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population
verfasst von
Moon-Woo Seong
Sung Im Cho
Dong-Young Noh
Wonshik Han
Sung-Won Kim
Chul-Min Park
Hyun-Woong Park
So Yeon Kim
Ji Yeon Kim
Sung Sup Park
Publikationsdatum
01.12.2009
Verlag
Springer Netherlands
Erschienen in
Familial Cancer / Ausgabe 4/2009
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-009-9279-z

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