Table 2.
Pathogenic mutations in this cohort of patients with triple‐negative breast cancer
| Patient | Genetic variants | Large deletion | ||
|---|---|---|---|---|
| Type | Gene | Location | Gene | |
| BRCA | ||||
| #1 | Frameshift | BRCA1 | NM_007300:exon10:c.3770_3771del:p.E1257fs | |
| #2 | Stopgain | BRCA1 | NM_007300:exon10:c.T3257G:p.L1086X | |
| #3 | Frameshift | BRCA1 | NM_007300:exon10:c.3228_3229del:p.R1076fs | FANCB |
| #4 | Frameshift | BRCA1 | NM_007300:exon2:c.66dupA:p.E23fs | FANCB, FANCG |
| #5 | Splicing | BRCA1 | NM_007300:exon22:c.5395+1G>A | FANCG |
| #6 | Stopgain | BRCA1 | NM_007300:exon10:c.C928T:p.Q310X | |
| #7 | Frameshift | BRCA2 | NM_000059:exon22:c.8894delA:p.D2965fs | BRCA2, FANCI |
| #8 | Frameshift | BRCA2 | NM_000059:exon10:c.1806dupA:p.G602fs | |
| Stopgain | BRCA2 | NM_000059:exon11:c.C3109T:p.Q1037X | ||
| #9 | Frameshift | BRCA1 | NM_007300:exon12:c.4356delA:p.K1452fs | |
| Frameshift | BRCA1 | NM_007300:exon10:c.865_866del:p.S289fs | ||
| #10 | Splicing | FANCA | NM_000135:exon21:c.1777‐1G>C | BRCA2 |
| #11 | BRCA1, FANCB, FANCC | |||
| #12 | BRCA1, BRCA2, FANCM, RAD51C | |||
| #13 | BRCA1, BRCA2, FACI, ATM, CHEK2 | |||
| Non‐BRCA HR | ||||
| #1a | Frameshift | BARD1 | NM_001282543:exon3:c.943_944del:p.K315fs | |
| #2 | Splicing | FANCB | NM_152633:exon7:c.1327‐2‐>T | |
| #3b | Frameshift | FANCB | NM_152633:exon2:c.483delT:p.V161fs | |
| #4 | Frameshift | RAD51D | NM_001142571:exon4:c.331_332insTA:p.K111fs | |
| #5 | Frameshift | RAD51D | NM_001142571:exon4:c.331_332insTA:p.K111fs | |
| #6 | Frameshift | PALB2 | NM_024675:exon6:c.2555_2567del:p.P852fs | FANCG, FANCM |
| #7 | Frameshift | ATM | NM_000051:exon35:c.5313delA:p.R1771fs | |
| #8 | Frameshift | BARD1 | NM_000465:exon4:c.628dupA:p.T210fs | |
| Frameshift | CHEK2 | NM_001005735:exon14:c.1580delC:p.P527fs | ||
| #9 | Frameshift | FANCI | NM_001113378:exon22:c.2252_2291del:p.E751fs | |
| #10 | Frameshift | RAD50 | NM_005732:exon13:c.2157delA:p.L719fs | |
| Frameshift | ATM | NM_000051:exon56:c.8249_8268del:p.L2750fs | ||
| #11 | Frameshift | RAD50 | RAD50:NM_005732:exon6:c.783_784del:p.N261fs | |
| #12 | FANCB | |||
| #13 | FANCA | |||
| #14 | FANCM | |||
| Other DDR genes | ||||
| #1 | Frameshift | ERCC4 | NM_005236:exon4:c.607_608del:p.F203fs | |
| #2 | Frameshift | ERCC4 | NM_005236:exon5:c.891_892del:p.Y297fs | |
| #3 | Stopgain | MSH3 | NM_002439:exon4:c.C724T:p.Q242X | |
| #4 | Splicing | MSH3 | NM_002439:exon13:c.1764‐2A>G | |
| #5 | Stopgain | MSH6 | NM_000179:exon4:c.C3013T:p.R1005X | |
| #6 | Frameshift | MSH6 | NM_000179:exon5:c.3254delC:p.T1085fs | |
| #7 | Frameshift | POLH | NM_006502:exon8:c.978delA:p.P326fs | |
| #8 | Frameshift | POLK | NM_016218:exon13:c.1631delA:p.E544fs | |
| #9 | Frameshift | PTEN | NM_000314:exon5:c.489_492del:p.K163fs | |
| #10 | Frameshift | PTEN | NM_000314:exon8:c.955dupA:p.L318fs | |
| #11 | Stopgain | PTEN | NM_000314:exon5:c.G448T:p.E150X | |
| #12 | Frameshift | PTEN | NM_000314:exon4:c.244dupA:p.F81fs | |
| #13 | Frameshift | STK11 | NM_000455:exon5:c.684delG:p.L228fs | |
| #14 | Frameshift | XPC | NM_001145769:exon1:c.75dupC:p.K26fs | |