Identification of large genomic rearrangement of BRACA1/2 in high risk patients in KOREA
- Dong-Seok Jeon; Keun Ho Lee; Soo Young Hur; Byung Joo Chae; Byung Joo Song; Do-Hoon Kim; Hyojin Chae; Irene Jo; Jaeeun Yoo; Hyeyoung Lee; Woori Jang; Joonhong Park; Gun Dong Lee; Yonggoo Kim; Myungshin 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.
- BRCA1; BRCA2; Breast cancer; Ovarian cancer; Genetic testing; Korea
- Appears in Collections:
- 1. Journal Papers (연구논문) > 1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
- Keimyung Author(s)
- 전동석; 김도훈
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