9. Summary of deleterious gBRCA mutations .
No. of patients | Gene | Location | Mutation type | AA change |
gBRCA, germline BRCA1/2. | ||||
193 | BRCA1 | c.3329dupA | Frameshift | Q1111Afs*5 |
126 | BRCA1 | c.3627dupA | Frameshift | E1210Rfs*9 |
105 | BRCA1 | c.3756_3759delGTCT | Frameshift | S1253Rfs*10 |
198 | BRCA1 | c.4065_4068delTCAA | Frameshift | N1355Kfs*10 |
210 | BRCA1 | c.5470_5477delTGCCCAAT | Frameshift | I1824Dfs* |
107 | BRCA1 | c.981_982delAT | Nonsense | C328* |
157 | BRCA1 | c.376C>T | Nonsense | Q126* |
216 | BRCA1 | c.3841C>T | Nonsense | Q128* |
98 | BRCA1 | c.4612C>T | Nonsense | Q1538* |
10 | BRCA2 | c.2059_2063delGATTA | Frameshift | D687* |
215 | BRCA2 | c.3319C>T | Nonsense | Q1107* |
83 | BRCA2 | c.4240delA | Frameshift | T1414Rfs*5 |
136 | BRCA2 | c.6288_6289delTA | Frameshift | T2097Vfs* |
113 | BRCA2 | c.6628G>T | Nonsense | E2210* |