Table 2.
BRCA status | % (N) | |
---|---|---|
Wild-type | 67 (120/179) | |
Mutated | 33 (59/179) | |
BRCA1 | 66.1 (39/59) | |
BRCA2 |
33.9 (20/59) |
|
Mutation |
% (N) |
Location |
BRCA1 | ||
1) ex9-12del (Mexican Founder Mutation) | 28.2 (11/39) | OCCR |
2) c.2806–2809 del GATA | 5.1 (2/39) | |
3) c.1860 del T | 5.1 (2/39) | |
4) c.1723 dup G | 2.6 (1/39) | |
5) c.1961 del A | 2.6 (1/39) | |
6) c.2101 A > T | 2.6 (1/39) | |
7) c.2551 G > T | 2.6 (1/39) | |
8) c.3598 C > T | 2.6 (1/39) | |
9) c.3648 dup A | 2.6 (1/39) | |
10) c.3858–3861 del TGAG | 2.6 (1/39) | |
11) c.4868 C > G | 5.1 (2/39) | BCCR |
12) c.211 A > G | 2.6 (1/39) | |
13) c.5353 C > T | 2.6 (1/39) | |
14) exon 18–19 del | 5.1 (2/39) | |
15) c.4327 C > T | 7.7 (3/39) | NRR |
16) c.798–799 del TT | 5.1 (2/39) | |
17) c.4976 del C | 2.6 (1/39) | |
18) c.68–69 del AG | 2.6 (1/39) | |
BRCA2 | ||
19) c.4325 C > A | 10 (2/20) | OCCR |
20) c.5116–5119 del AATA | 10 (2/20) | |
21) c.4749–4750 del AG | 5 (1/20) | |
22) c.5542 del A | 5 (1/20) | |
23) c.5616–5620 del AGTAA | 5 (1/20) | |
24) c.5631 del C | 5 (1/20) | |
25) c.8168 A > G | 25 (5/20) | BCCR |
26) c.1796–1800 del CTTAT | 10 (2/20) |
OCCR = ovarian cancer cluster region; BCCR = breast cancer cluster region; NRR = not-related risk region.