Table 1.
Ten most frequently observed mutations by self-identified race/ethnicity (%) (by family).
| Mutation rank | Caucasian | African American | Asian | Hispanic/Latino | Jewish | Other | |
|---|---|---|---|---|---|---|---|
| BRCA1 | 1 | c.5266dup (17%) | c.815_824dup (16%) | c.390C > A (4%) | c.68_69del (12%) | c.68_69del (72%) | c.5266dup (12%) |
| 2 | c.181T > G (6%) | c.5324T > G (7%) | c.5496_5506delinsA (3%) | c.3331_3334del (10%) | c.5266dup (24%) | c.68_69del (17%) | |
| 3 | c.68_69del (6%) | c.5177_5180del (5%) | c.470_471del (3%) | c.5123C > A (9%) | c.3756_3759del (0.3%) | c.181T > G (5%) | |
| 4 | c.4035del (2%) | c.4357+1G > A (5%) | c.5503C > T (2%) | c.548-?_4185+?del (7%) | c.1757 del (0.3%) | c.5333–36_5406 + 400del (3%) | |
| 5 | c.4065_4068del (2%) | c.190T > G (3%) | c.922_924delinsT (2%) | c.211A > G (5%) | c.2934T > G (0.2%) | c.3481_3491del (2%) | |
| 6 | c.3756_3759del (2%) | c.68_69del (3%) | c.68_69del(2%) | c.815_824del (3%) | c.5503C > T (0.1%) | c.1687C > T (2%) | |
| 7 | c.1687C > T (2%) | c.5467+1G > A (3%) | c.3770_3771del (2%) | c.2433 del (3%) | c.4185+1G > T (0.1%) | c.4065_4068del (2%) | |
| 8 | c.4327C > T (2%) | c.182G > A (3%) | c.2635G > T (2%) | c.1960A > T (3%) | c.4689C > G (0.1%) | c.5277+1G > A (2%) | |
| 9 | c.2475del (2%) | c.5251C > T (2%) | c.2726dup (2%) | c.3029_3030del (3%) | c.3770_3771del (0.1%) | c.2685_2686del (68%) | |
| 10 | c.4186-?_4357+?dup (1%) | c.4484G > T (2%) | c.3627 dup (2%) | c.4327C > T (2%) | c.4936 del(0.1%) | c.4327C > T (1%) | |
| Families | 11,258 | 174 | 550 | 408 | 1852 | 4583 | |
| Unique Mutations | 1206 | 77 | 240 | 104 | 56 | 765 | |
| BRCA2 | 1 | c.5946del (5%) | c.2808_2811del (6%) | c.7480C > T (8%) | c.3264dup (17%) | c.5946del (94%) | c.5946del (5%) |
| 2 | c.6275_6276del(3%) | c.4552 del (6%) | c.3109C > T (6%) | c.2808_2811del (9%) | c.3847_3848del (0.4%) | c.6275_6276del (4%) | |
| 3 | c.2808_2811del(3%) | c.9382C > T (5%) | c.3744_3747del (4%) | c.145G > T (5%) | c.1754 del (0.4%) | c.2808_2811del (3%) | |
| 4 | c.771_775del(2%) | c.1310_1313del (4%) | c.1399A > T (3%) | c.9026_9030del (3%) | c.9382C > T (0.3%) | c.1813dup (3%) | |
| 5 | c.3847_3848del(2%) | c.5616_5620del (4%) | c.5576_5579del (3%) | c.658_659del (3%) | c.5621_5624del (0.2%) | c.5645C > A (2%) | |
| 6 | c.5682C > G (2%) | c.6405_6409del (3%) | c.2808_2811del (2%) | c.5542 del (3%) | c.2808_2811del (0.2%) | c.1310_1313del (2%) | |
| 7 | c.1813dup (2%) | c.658_659del (3%) | c.7878G > A (2%) | c.3922G > T (3%) | c.4829_4830del (0.2%) | c.3847_3848del (2%) | |
| 8 | c.8537_8538del (1%) | c.2957_2958insG (2%) | c.262_263del (2%) | c.1813dup (2%) | c.5238 del (0.2%) | c.5682C > G (1%) | |
| 9 | c.658_659del (1%) | c.7024C > T (2%) | c.7133C > G (1%) | c.9699_9702del (2%) | c.9207T > A (0.1%) | c.9672 dup (1%) | |
| 10 | c.7934del (1%) | c.6531_6534del (2%) | c.5164_5165del (1%) | c.6275_6276del (2%) | c.3264dup (0.1%) | c.658_659del (1%) | |
| Families | 7156 | 125 | 538 | 207 | 990 | 2551 | |
| Unique Mutations | 1242 | 77 | 248 | 91 | 44 | 753 | |
Mutational distribution among major ethnic groups. The numbers refer to individuals for whom self-identified ethnicity was recorded [6].