Table 3.
Recurrent LRs Associated With Different Ancestriesa
| Mutation | Latin America/Caribbean (6.5%) | All Other Specified Ancestries (93.5%) | Pb |
|---|---|---|---|
| BRCA1 del entire gene | 13 (76%) | 4 (24%) | <.001 |
| BRCA1 del exons 1-2 | 19 (42%) | 26 (58%) | <.001 |
| BRCA1 del exons 9-12 | 44 (88%) | 6 (12%) | <.001 |
| BRCA1 del exon 14 | 5 (71%) | 2 (29%) | <.001 |
| BRCA1 del exons 16-17 | 16 (76%) | 5 (24%) | <.001 |
| African (7.4%) | All Other Specified Ancestries (92.6%) | Pb | |
| BRCA1 del exons 1-19 | 6 (75%) | 2 (25%) | <.001 |
| BRCA1 del exon 8 | 5 (71%) | 2 (29%) | <.001 |
| BRCA1 dup exons 18-19 | 15 (100%) | 0 (0%) | <.001 |
| Central/Eastern Europe (7.4%) | All Other Specified Ancestries (92.6%) | Pb | |
| BRCA1 del exon 22 | 6 (40%) | 9 (60%) | <.001 |
| Western/Northern Europe (70.8%) | All Other Specified Ancestries (29.2%) | Pb | |
| BRCA1 dup exon 13 | 91 (91%) | 9 (9%) | <.001 |
| BRCA1 del exons 14-20 | 13 (100%) | 0 (0%) | .015 |
| BRCA1 del exon 20 | 19 (90%) | 2 (10%) | .054 |
| BRCA1 del exons 21-24 | 15 (94%) | 1 (6%) | .052 |
| BRCA2 del exons 1-2 | 11 (100%) | 0 (0%) | .041 |
BRCA1 indicates breast cancer 1, early onset gene; BRCA2 indicates breast cancer 2, early onset gene; LR, large rearrangement.
a
These data include LRs identified at least 5 times among patients who reported only one ancestry. Percentages are given after populations to indicate relative population prevalence for this analysis. Percentages are given after counts to indicate the percentage of total observations of that rearrangement represented by the count.
b
Fisher's exact test.