Table 3.
Combination of Class 5, Class 4, and Class 3 variants in the BRCA1 and BRCA2 genes within each patient.
| Patients with Double or Triple Gene Variants | |||||||
|---|---|---|---|---|---|---|---|
| List of Patient |
BC/OC | Gene | HGVS Nucleotide | HGVS Protein | rs | Variant Type |
Class |
| 1 | BC | BRCA1 | c.3228_3229delAG; | p.(Gly1077AlafsTer8) | no rs | F | 5 |
| BRCA2 | c.464G>C | p.(Arg155Thr) | rs377639990 | M | 3 | ||
| 2 | BC | BRCA2 | c.1238delT | p.(Leu413HisfsTer17) | rs80359271 | F | 5 |
| BRCA1 | c.5095C>T | p.(Arg1699Trp) | rs55770810 | M | 5 | ||
| 3 | BC | BRCA1 | c.798_799delTT | p.(Ser267LysfsTer19) | no rs | F | 5 |
| BRCA2 | c.6290C>T | p.(Thr2097Met) | rs80358866 | M | 1 | ||
| 4 | OC | BRCA1 | c.5062_5064delGTT | p.(Val1688del) | rs80358344 | IFD | 5 |
| BRCA2 | c.4054G>T | p.(Asp1352Tyr) | rs80358655 | M | 3 | ||
| 5 | OC | BRCA2 | c.800G>A | p.(Gly267Glu) | rs80359036 | M | CIP |
| BRCA1 | c.4213A>G | p.(Ile1405Val) | rs80357353 | M | CIP | ||
| 6 | OC | BRCA2 | c.5796_5797delTA | p.(His1932GlnfsTer12) | rs80359537 | F | 5 |
| BRCA1 | c.(?_-232)_(4096+1_4097-1)del | p.0? | - | LGR | 5 | ||
| 7 | BC | BRCA1 | c.134+2T>C | - | rs80358131 | IVS | 5 |
| BRCA1 | c.2281G>C | p.(Glu761Gln) | rs397507198 | M | 3 | ||
| 8 | BC | BRCA1 | c.3756_3759delGTCT | p.(Ser1253ArgfsTer10) | rs80357868 | F | 5 |
| BRCA2 | c.3381delT | p.(Phe1127LeufsTer23) | no rs | F | 3 | ||
| 9 | OC | BRCA1 | c.4964_4982del | p.(Ser1655TyrfsTer16) | rs80359876 | F | 5 |
| BRCA1 | c.525G>A | p.(Lys175=) | rs1555594837 | S | 3 | ||
| 10 | OC | BRCA2 | c.2808_2811delACAA | p.(Ala938ProfsTer21) | rs80359351 | F | 5 |
| BRCA2 | c.9116C>T | p.(Pro3039Leu) | rs80359167 | M | CIP | ||
| 11 | BC | BRCA2 | c.2808_2811delACAA | p.(Ala938ProfsTer21) | rs80359351 | F | 5 |
| BRCA2 | c.9116C>T | p.(Pro3039Leu) | rs80359167 | M | CIP | ||
| 12 | OC | BRCA2 | c.865A>G | p.(Asn289Asp) | rs766173 | M | CIP |
| BRCA2 | c. 5126A>C | p.(Asp1709Ala) | rs786202836 | M | 3 | ||
| 13 | BC | BRCA2 | c.99A>G | p.(Glu33=) | no rs | S | Novel# |
| BRCA2 | c.9828A>T | p.(Arg3276Ser) | rs80359245 | M | 3 | ||
| BRCA2 | c.517-4C>G | - | rs81002804 | IVS | 3 | ||
| 14 | OC | BRCA2 | c.658_659delGT | p.(Val220IlefsTer4) | rs80359604 | F | 5 |
| BRCA2 | c.1118A>C | p.(Gln373Pro) | no rs | M | Novel$ | ||
| 15 | OC | BRCA2 | c.3635delA | p.(Asn1212Metfs16) | no rs | F | 5 |
| BRCA2 | c.7902G>A | p.(Met2634Ile) | M | Novel# | |||
| 16 | Other | BRCA2 | c.8452G>A | p.(Val2818Ile) | rs80359094 | M | 3 |
| BRCA2 | c.191C>T | p.(Thr64Ile) | rs397507615 | M | 3 | ||
| 17 | BC | BRCA2 | c.5959C>T | p.(Gln1987Ter) | rs80358828 | NS | 5 |
| BRCA2 | c.9038C>T | p.(Thr3013Ile) | rs28897755 | M | 1 | ||
| 18 | BC | BRCA2 | c.7008-2A>T | - | rs81002823 | IVS | 5 |
| BRCA2 | c.631G>A | p.(Val211Ile) | rs80358871 | M | 5 | ||
| 19 | OC | BRCA1 | c.5266dupC | p.(Gln1756ProfsTer74) | rs397507247 | F | 5 |
| BRCA2 | c.8262T>G | p.(His2754Gln) | rs587776472 | M | 3 | ||
| 20 | BC | BRCA2 | c.5202A>C | p.(Glu1734Asp) | rs1243093278 | M | 3 |
| BRCA2 | c.5867A>T | p.(Asp1956Val) | rs1309562690 | M | 3 | ||
| 21 | BC | BRCA2 | c.2049_2050delTC | p.(Ser683Argfs) | rs80359319 | F | 5 |
| BRCA2 | c.5191C>T | p.(His1731Tyr) | rs80358745 | M | 3 | ||
| 22 | OC | BRCA2 | c.631G>A | p.(Val211Ile) | rs80358871 | M | 5 |
| BRCA2 | c.7008-2A>T | - | rs81002823 | IVS | 5 | ||
| BRCA2 | c.79A>G | p.(Ile27Val) | rs80359034 | M | 3 | ||
| 23 | BC | BRCA2 | c.8567A>C | p.(Glu2856Ala) | rs11571747 | M | CIP |
| BRCA2 | c.7008-62A>G | - | rs76584943 | IVS | CIP | ||
| 24 | BC | BRCA2 | c.631G>A | p.(Val211Ile) | rs80358871 | M | 5 |
| BRCA2 | c.7008-2A>T | - | rs81002823 | IVS | 5 | ||
| 25 | BC | BRCA2 | c.2905C>T | p.(Gln969Ter) | rs886038080 | NS | 5 |
| BRCA2 | c.6447_6448dupTA | p.(Lys2150IlefsTer19) | rs397507858 | F | 5 | ||
| 26 | OC | BRCA2 | c.631G>A | p.(Val211Ile) | rs80358871 | M | 5 |
| BRCA2 | c.7008-2A>T | - | rs81002823 | IVS | 5 | ||