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Identification of large genomic rearrangement of BRACA1/2 in high risk patients in KOREA

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Affiliated Author(s)
전동석김도훈
Alternative Author(s)
Kim, Do HoonJeon, Dong Seok
Journal Title
BMC Medical Genetics
ISSN
1471-2350
Issued Date
2017
Keyword
BRCA1BRCA2Breast cancerOvarian cancerGenetic testingKorea
Abstract
Background: While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large
genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic
methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary.
Methods: We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative
patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk
subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3)
breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with
breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5)
epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer.
Results: Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous
duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted
for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2
newly identified cases, were found exclusively in families with at least one high-risk feature.
Conclusions: Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary
for Korean patients.
Department
Dept. of Laboratory Medicine (진단검사의학)
Publisher
School of Medicine
Citation
Dong-Seok Jeon et al. (2017). Identification of large genomic rearrangement of BRACA1/2 in high risk patients in KOREA. BMC Medical Genetics, 18(1), 38–38. doi: 10.1186/s12881-017-0398-3
Type
Article
ISSN
1471-2350
DOI
10.1186/s12881-017-0398-3
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/32371
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
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