Table 4. Characteristics of ovarian cancer patients with BRCA1 LGRs reported in Korea.
Exon rearrangement | Age at Dx (yr) | FHx of BRCA-associated cancer | Tumor histology | Tumor grade | Stage | BRCAPRO score | Myriad score | BOADICEA score | Reference |
---|---|---|---|---|---|---|---|---|---|
Deletion of exon 1–2 | 45 | 1 BC | serous | 3 | III | 0.199 | 0.143 | 0.164 | This study |
Duplication of exon 4–6 | 35 | 1 BC, 1OC | serous | 3 | III | 0.730 | 0.344 | 0.398 | [17] |
Deletions of exon 21–23 | 65 | 1OC | serous | 3 | III | 0.089 | 0.147 | 0.024 | This study |
LGR, large genomic rearrangement; Dx, diagnosis; FHx, family history; BC, breast cancer; OC, ovarian cancer.