Table 2.
Ten most frequently observed mutations by continent of ascertainment (%) (by family).
| Mutation rank | Caucasian | African American | Asian | Hispanic/Latino | Jewish | Other | |
|---|---|---|---|---|---|---|---|
| BRCA1 | 1 | c.68_69del (26%) | c.2641G > T (26%) | c.68_69del (47%) | c.3331_3334del (20%) | c.5266dup (17%) | c.68_69del (10%) |
| 2 | c.5266dup (13%) | c.5266dup (10%) | c.5266dup (14%) | c.5266dup (16%) | c.181T > G (7%) | c.5266dup (8%) | |
| 3 | c.181T > G (3%) | c.1374 del (6%) | c.390C > A (2%) | c.68_69del (9%) | c.68_69del (4%) | c.4065_4068del (4%) | |
| 4 | c.4327C > T (2%) | c.68_69del (6%) | c.5496_5506delinsA (2%) | c.5123C > A (8%) | c.4035del (2%) | c.3756_3759del (4%) | |
| 5 | c.4065_4068del (1%) | c.3228_3229del (6%) | c.5503C > T (1%) | c.211A > G (5%) | c.1687C > T (2%) | c.5503C > T (3%) | |
| 6 | c.3756_3759del (1%) | c.303T > G (6%) | c.2934T > G (1%) | c.181T > G (3%) | c.4065_4068del (2%) | c.4186-?_4357+?dup (3%) | |
| 7 | c.213-11T > G (1%) | c.4838_4839insC (3%) | c.3770_3771del (1%) | c.548-?_4183 + 8?del (3%) | c.3481_3491del (1%) | c.4327C > T (2%) | |
| 8 | c.1687C > T (1%) | c.3268C > T (3%) | c.2726dup (1%) | c.1687C > T (2%) | c.2475del (1%) | c.5278-?_5592+?del (2%) | |
| 9 | c.4186-?_4357+?dup (1%) | c.1504_1508del (3%) | c.470_471del (1%) | c.135-?_441+?del (2%) | c.3756_3759del (1%) | c.70_80del (2%) | |
| 10 | c.1175_1214del (1%) | c.191G > A (3%) | c.922_924delinsT (1%) | c.5030_5033del (2%) | c.3770_3704del (1%) | c.1961 del (2%) | |
| Families | 4669 | 69 | 1100 | 271 | 11,748 | 581 | |
| Unique Mutations | 654 | 30 | 187 | 75 | 1282 | 173 | |
| BRCA2 | 1 | c.5946del (23%) | c.7934del (47%) | c.5946del (34%) | c.2808_2811del (11%) | c.6275_6276del (2%) | c.5946del (5%) |
| 2 | c.2808_2811del (3%) | c.5946del (4%) | c.7480C > T (4%) | c.5946del (9%) | c.5946del (2%) | c.6275_6276del (2%) | |
| 3 | c.8537_8538del (2%) | c.1310_1313del (2%) | c.3109C > T (3%) | c.2T > G (2%) | c.2808_2811del (2%) | c.7977-1G > C (1%) | |
| 4 | c.1813dup (2%) | c.6944_6947del (1%) | c.3744_3747del (2%) | c.156_157insAlu (2%) | c.771_775del (1%) | c.5682C > G (1%) | |
| 5 | c.6275_6276del (2%) | c.8817_8820del (1%) | c.1399A > T (2%) | c.6037A > T (2%) | c.3847_3848del (1%) | c.3847_3848del (1%) | |
| 6 | c.3847_3848del (3%) | c.5213_5216del (1%) | c.5576_5579del (2%) | c.6405_6409del (3%) | c.1813dup (1%) | c.2808_2811del (1%) | |
| 7 | c.658_659del (2%) | c.6535_6536insA (1%) | c.2808_2811del (1%) | c.5645C > G (1%) | c.5682C > G (1%) | c.755_758del (1%) | |
| 8 | c.9382C > T (1%) | c.774_775del (1%) | c.262_263del (1%) | c.658_659del (1%) | c.1310_1313del (1%) | c.4478_4481del (1%) | |
| 9 | c.3264dup (1%) | c.6393 del (1%) | c.8537_8538del (1%) | c.7180A > T (1%) | c.5645C > A (1%) | c.8297 del (1%) | |
| 10 | c.55073 dup (1%) | c.5042_5043del (1%) | c.7878G > A (1%) | c.5851_5854del (1%) | c.9026_9030del (1%) | c.250C > T (1%) | |
| Families | 3375 | 170 | 976 | 222 | 10,175 | 1047 | |
| Unique Mutations | 660 | 27 | 187 | 58 | 1315 | 179 | |
Geographic distribution of BRCA1 and BRCA2 gene mutations [6].