Table 1.
Patient | Agea | gene | Exon | Mutationb | mutation type | Pathogenic mutation | BICc |
---|---|---|---|---|---|---|---|
AE | 25 | BRCA1 | 11 | c.2784_2785insT | frameshift | + | no |
B10 | 31 | BRCA1 | 13 | p.Leu1415X | nonsense | + | no |
AA | 40 | BRCA1 | 13–15 | −d | large rearrangement | + | no |
AB | 34 | BRCA2 | 11 | c.3040_3043del4 | frameshift | + | 1 |
B5 | 66 | BRCA2 | 11 | p.Glu2183X | nonsense | + | no |
B6 | 65 | BRCA2 | 11 | p.Glu2183X | nonsense | + | no |
B-III-5 | 30 | BRCA2 | 11 | p.Leu824X | nonsense | + | no |
AZ | 40 | BRCA2 | 11 | p.Leu824X | nonsense | + | no |
W-II | 37 | BRCA2 | 21 | p.Gln2894X | nonsense | + | no |
Q-II | 40 | BRCA1 | 2 | c.101–10T>C | IVS | ± | 6 |
P-III-19 | 19 | BRCA1 | 9 | p.Val191Ile | Missense | ± | 6 |
J22 | 32 | BRCA1 | 11 | p.Leu1209Val | Missense | ? | no |
AZ | 40 | BRCA1 | 16 | p.Met1652Ile | Missense | ± | 35 |
B1 | 24 | BRCA1 | 20 | c.5313–31A>G | IVS | ? | no |
B7 | 31 | BRCA1 | 24 | p.Arg1835Gln | Missense | ? | no |
216 | 33 | BRCA1 | 24 | p.Thr1852Ile | Missense | ? | no |
P-III-19 | 19 | BRCA2 | 5 | p.Gln147Arg | Missense | ± | 6 |
B3 | 24 | BRCA2 | 10 | p.Gln609Glu | Missense | ? | no |
C-II-7 | 39 | BRCA2 | 11 | p.Met1149Val | Missense | ± | 5 |
AO | 28 | BRCA2 | 11 | p.Met1149Val | Missense | ± | 5 |
AQ | 44 | BRCA2 | 11 | p.Met1149Val | Missense | ± | 5 |
BH | 38 | BRCA2 | 11 | p.Met1149Val | Missense | ± | 5 |
172 | 36 | BRCA2 | 11 | p.Gln699Leu | Missense | ? | no |
J32 | 29 | BRCA2 | 11 | p.Arg2108Cys | Missense | ± | 16 |
J6 | 33 | BRCA2 | 11 | p.Val950Ile | Missense | ? | no |
206 | 37 | BRCA2 | 25 | c.9485–16T>C | IVS | ± | 4 |
BC | 35 | BRCA2 | 27 | p.Ile3412Val | Missense | ± | 109 |
166 | 33 | BRCA2 | 27 | p.Ile3412Val | Missense | ± | 109 |
J24 | 35 | BRCA2 | 27 | p.Ile3412Val | Missense | ± | 109 |
206 | 37 | BRCA2 | 27 | p.Lys3326X | nonsense | ± | 289 |