Table 1.
Cancer-associated mutations in the breast cancer cell lines. Information was obtained from the online Catalogue of Somatic Mutations In Cancer (COSMIC) database. Only genes defined as being cancer associated by COSMIC are listed.
| cell line | gene | transcript | AA mutation | CDS mutation | type |
|---|---|---|---|---|---|
| MCF7 breast, carcinoma, ER-PR-positive carcinoma | ATP2B3 | ENST00000359149 | p.V882E | c.2645T≥A | substitution—missense |
| EP300 | ENST00000263253 | p.R1356* | c.4066C≥T | substitution—nonsense | |
| ERBB4 | ENST00000342788 | p.Y1242C | c.3725A≥G | substitution—missense | |
| FUS | ENST00000254108 | p.D502delD | c.1503_1505delGGA | deletion—in frame | |
| GATA3 | ENST00000379328 | p.D336fs*17 | c.1006_1007insG | insertion—frameshift | |
| KMT2C | ENST00000262189 | p.I3590 L | c.10768A≥C | substitution—missense | |
| MAP3K13 | ENST00000424227 | p.D380N | c.1138G≥A | substitution—missense | |
| MYH9 | ENST00000216181 | p.K682_L687delKLDPHL | c.2043_2060del18 | deletion—in frame | |
| PIK3CA | NM_006218.1 | p.E545 K | c.1633G≥A | substitution—missense | |
| HCC1806 breast, carcinoma, basal (triple-negative) carcinoma | TP53 | ENST00000269305 | p.T256fs*90 | c.? | frameshift |
| PIK3CA WT | |||||
| JIMT-1 breast (carcinoma; HER-positive carcinoma) | PIK3CA | NM_006218.1 | p.C420R | c.? | substitution—missense |
| TP53 | ENST00000269305 | p.R248 W | c.? | substitution—missense | |
| T47D breast, carcinoma, ductal carcinoma | ACVR1 | ENST00000263640 | p.N100D | c.298A≥G | substitution—missense |
| ARID1A | ENST00000324856 | p.Q944* | c.2830C≥T | substitution—nonsense | |
| KDM5C | ENST00000375401 | p.Q920* | c.2758C≥T | substitution—nonsense | |
| KDM5C | ENST00000375401 | p.L921 V | c.2761C≥G | substitution—missense | |
| KMT2C | ENST00000262189 | p.I3590 L | c.10768A≥C | substitution—missense | |
| MLLT4 | ENST00000366809 | p.T838fs*4 | c.2512_2513insA | insertion—frameshift | |
| PIK3CA | NM_006218.1 | p.H1047R | c.3140A≥G | substitution—missense | |
| SPEN | ENST00000375759 | p.D329fs*2 | c.984_985insA | insertion—frameshift | |
| TP53 | ENST00000269305 | p.L194F | c.580C≥T | substitution—missense | |
| CAMA-1 breast, carcinoma, luminal carcinoma | CDH1 | ENST00000261769 | p.? | c.1712-1G≥A | unknown |
| PTEN | ENST00000371953 | p.D92H | c.274G≥C | substitution—missense | |
| PTEN | ENST00000371953 | p.D268_F279≥12 | c.802_837GACAAAATGTTTCACTTTTGGGTAAATACATTCTTC≥36 | complex—compound substitution | |
| PIK3CA WT | |||||
| BT-549 breast, carcinoma, ductal carcinoma | PTEN | ENST00000371953 | p.V275fs*1 | c.823delG | deletion—frameshift |
| TP53 | ENST00000269305 | p.R249S | c.747G≥C | substitution—missense | |
| PIK3CA WT | |||||
| MDA-MB-231 breast, carcinoma, basal (triple-negative) carcinoma | BRAF | ENST00000288602 | p.G464 V | c.1391G≥T | substitution—missense |
| CD79A | ENST00000221972 | p.C106Y | c.317G≥A | substitution—missense | |
| CRTC3 | ENST00000268184 | p.P578A | c.1732C≥G | substitution—missense | |
| NF2 | ENST00000338641 | p.E231* | c.691G≥T | substitution—nonsense | |
| PDGFRA | ENST00000257290 | p.Y172F | c.515A≥T | substitution—missense | |
| TP53 | ENST00000269305 | p.R280 K | c.839G≥A | substitution—missense | |
| PIK3CA WT | |||||
| ZR-75-1 breast, carcinoma | PTEN | ENST00000371953 | p.L108R | c.323T≥G | substitution—missense |
| PIK3CA WT | |||||
| HCC38 breast, carcinoma, ductal | IKBKB | ENST00000520810 | p.A360S | c.1078G≥T | substitution—missense |
| TOP1 | ENST00000361337 | p.K326R | c.977A≥G | substitution—missense | |
| TP53 | ENST00000269305 | p.R273 L | c.818G≥T | substitution—missense | |
| PIK3CA WT | |||||
| HCC1569 breast, carcinoma, HER-positive | TP53 | ENST00000269305 | p.E294* | c.? | substitution—nonsense |
| TP53 | ENST00000269305 | p.S227fs*? | c.? | frameshift | |
| PIK3CA WT | |||||
| NCI-H460 lung, carcinoma, large cell carcinoma | ARID1A | ENST00000324856 | p.I2135_L2136del | c.6403_6408delATTCTG | deletion—in frame |
| KDR | ENST00000263923 | p.G1304C | c.3910G≥T | substitution—missense | |
| KEAP1 | ENST00000393623 | p.D236H | c.706G≥C | substitution—missense | |
| KRAS | ENST00000311936 | p.Q61H | c.183A≥T | substitution—missense | |
| LIFR | ENST00000263409 | p.L493F | c.1477C≥T | substitution—missense | |
| MYH11 | ENST00000338282 | p.D757E | c.2271C≥A | substitution—missense | |
| NBN | ENST00000265433 | p.G224A | c.671G≥C | substitution—missense | |
| PIK3CA | NM_006218.1 | p.E545 K | c.1633G≥A | substitution—missense | |
| PPP2R1A | ENST00000322088 | p.E64D | c.192G≥T | substitution—missense | |
| RAD21 | ENST00000297338 | p.D118 V | c.353A≥T | substitution—missense | |
| TNFAIP3 | ENST00000237289 | p.R136C | c.406C≥T | substitution—missense | |
| ZFHX3 | ENST00000268489 | p.P3675Q | c.11024C≥A | substitution—missense | |
| HCC1500 breast, carcinoma, ER-PR-positive | PIK3CA | NM_006218.1 | p.T1025T | c.3075C≥T | substitution—coding |