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Table 3 Risk characteristics of BRCA1 large genomic rearrangements reported in Korea

From: Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

Exon rearrangement primary cancer Age (at Dx) FHx High risk features BRCAPRO KOHCal Detection method Reference
Duplication of exon 4–6 OC 35 1 BC, 1 OC, 2 COBO Strong FHx 0.7296 NA MLPA This study
Deletions of exon 10–12 BC 35 2 BC Early-onset BC Strong FHx 0.2635 69.3 MLPA, long PCR 10
Deletions of exon 12–14 BC 35 1 BC, 1 OC Early-onset BC Strong FHx 0.4352 33.4 MLPA 10
Deletions of exon 12–14 BC 49 2 BC, 1 COBO Early-onset BC Strong FHx 0.0015 19.0 MLPA, long PCR 9
Deletion of exon 19 BC 31 2 BC, 7 COBO Early-onset BC Bilateral BC Strong FHx 0.0961 76.9 MLPA This study
Deletions of exon 1–23 BC 36 4 BC Strong FHx 0.8132 30.4 MLPA 10
Deletions of exon 1–23 BC NA NA NA NA NA MLPA 1
  1. BC breast cancer, OC ovarian cancer, COBO cancers other than breast or ovary, Dx diagnosis, FHx family, MLPA multiplex ligation-dependent probe amplification, NA not available