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 |