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

Dong-Seok JeonKeun Ho LeeSoo Young HurByung Joo ChaeByung Joo SongDo-Hoon KimHyojin ChaeIrene JoJaeeun YooHyeyoung LeeWoori JangJoonhong ParkGun Dong LeeYonggoo KimMyungshin Kim
Dept. of Laboratory Medicine (진단검사의학)
Issue Date
BMC Medical Genetics, Vol.18(1) : 38-38, 2017
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.
BRCA1BRCA2Breast cancerOvarian cancerGenetic testingKorea
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1. Journal Papers (연구논문) > 1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
Keimyung Author(s)
전동석; 김도훈
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