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Database Version:1.4 |  |
| Home | NCI-60 Analysis Tools | Query Genomic Data | Query Drug Data | Download Data Sets | Cell Line Metadata | Data Set Metadata | Mutation Data |
In collaboration with the Wellcome Trust Sanger Institute we are sequencing the NCI-60 DNA for mutations in known human cancer genes. Cells were supplied by the NCI/NIH Developmental Therapeutics Program. The coding exons and immediate flanking intron sequences of selected genes from the Cancer Gene Census have been PCR-amplified and sequenced. The results have been entered in the COSMIC database and web site. Further genes are currently being sequenced to expand the mutation data on the NCI-60. DNA sequence mutations, were confirmed in at least two independent experiments.
| Legend | |
|---|---|
| CDS | Coding Sequence |
| AA | Amino acid |
| LOM | Likely Oncogenic Mutation |
| TOV | Tentative Oncogenic Variant |
| Mutation notation is described using the Human Genome Variation Society's nomenclature. | |
| Please refer to Ikediobi O et al. Mol Cancer Ther 2006;5(11):2606-2612 for additional details | |
| Cell line | HUGO gene symbol | Zygosity | CDS mutation | AA mutation | Characterization of mutation |
|---|---|---|---|---|---|
| BR:BT_549 | RB1 | Homozygous | c.265_607 del 343 | p.? | LOM |
| BR:BT_549 | TP53 | Homozygous | c.747G>C | p.R249S | LOM |
| BR:HS578T | CDKN2A | Homozygous | c. 1_471 del 471 | p.M1_ *157del | LOM |
| BR:HS578T | HRAS | Heterozygous | c.35G>A | p.G12D | LOM |
| BR:HS578T | TP53 | Homozygous | c.469G>T | p.V157F | LOM |
| BR:MCF7 | CDKN2A | Homozygous | c. 1_471 del 471 | p.M1_ *157del | LOM |
| BR:MCF7 | PIK3CA | Heterozygous | c.1633G>A | p.E545K | LOM |
| BR:MDA_MB_231 | BRAF | Heterozygous | c.1391G>T | p.G464V | LOM |
| BR:MDA_MB_231 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| BR:MDA_MB_231 | KRAS | Heterozygous | c.38G>A | p.G13D | LOM |
| BR:MDA_MB_231 | TP53 | Homozygous | c.839G>A | p.R280K | LOM |
| BR:T47D | PIK3CA | Heterozygous | c.3140A>G | p.H1047R | LOM |
| BR:T47D | TP53 | Homozygous | c.580C>T | p.L194F | LOM |
| CNS:SF_268 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| CNS:SF_268 | TP53 | Homozygous | c.818G>A | p.R273H | LOM |
| CNS:SF_295 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| CNS:SF_295 | PTEN | Homozygous | c.697C>T | p.R233X | LOM |
| CNS:SF_295 | TP53 | Homozygous | c.743G>A | p.R248Q | LOM |
| CNS:SF_539 | PTEN | Homozygous | c.1_1026 del 1026 | p.? | LOM |
| CNS:SF_539 | RB1 | Homozygous | c.346_349delACTT | p.T116fsX8 | LOM |
| CNS:SF_539 | TP53 | Homozygous | c.1024delC | p.R342fsX3 | LOM |
| CNS:SNB_19 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| CNS:SNB_19 | PTEN | Homozygous | c.723_724insTT | p.E242fsX15 | LOM |
| CNS:SNB_19 | TP53 | Homozygous | c.818G>A | p.R273H | LOM |
| CNS:SNB_75 | TP53 | Homozygous | c.772G>A | p.E258K | LOM |
| CNS:U251 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| CNS:U251 | PTEN | Homozygous | c.723_724insTT | p.E242fsX15 | LOM |
| CNS:U251 | TP53 | Homozygous | c.818G>A | p.R273H | LOM |
| CO:COLO205 | APC | Homozygous | c.4666_4667insA | p.T1556fsX3 | LOM |
| CO:COLO205 | BRAF | Heterozygous | c.1799T>A | p.V600E | LOM |
| CO:COLO205 | SMAD4 | Homozygous | c.1_904del904 | p.? | LOM |
| CO:COLO205 | TP53 | Homozygous | c.308_333>TA | p.Y103fsX37 | LOM |
| CO:HCC_2998 | APC | Heterozygous | c.1994T>A | p.L665X | LOM |
| CO:HCC_2998 | APC | Heterozygous | c.4348C>T | p.R1450X | LOM |
| CO:HCC_2998 | RB1 | Heterozygous | c.409G>T | p.E137X | TOV |
| CO:HCC_2998 | TP53 | Heterozygous | c.637C>T | p.R213X | TOV |
| CO:HCT_116 | BRCA2 | Heterozygous | c.8021_8022insA | p.I2675fsX6 | TOV |
| CO:HCT_116 | CDKN2A | Heterozygous | c.68_69insG | p.R24fsX20 | LOM |
| CO:HCT_116 | CDKN2A | Heterozygous | c.220delG | p.E74fsX15(p14) | LOM |
| CO:HCT_116 | CTNNB1 | Homozygous | c.133-135 del TCT | p.S45 del | LOM |
| CO:HCT_116 | KRAS | Heterozygous | c.38G>A | p.G13D | LOM |
| CO:HCT_116 | PIK3CA | Heterozygous | c.3140A>G | p.H1047R | LOM |
| CO:HCT_15 | APC | Heterozygous | c.6496C>T | p.R2166X | LOM |
| CO:HCT_15 | APC | Homozygous | c.4248delC | p.I1417fsX2 | LOM |
| CO:HCT_15 | BRCA2 | Heterozygous | c.3599_3600delGT | p.C1200fsX1 | TOV |
| CO:HCT_15 | BRCA2 | Heterozygous | c.5351delA | p.N1784fsX7 | TOV |
| CO:HCT_15 | KRAS | Heterozygous | c.38G>A | p.G13D | LOM |
| CO:HCT_15 | PIK3CA | Heterozygous | c.1633G>A | p.E545K | LOM |
| CO:HCT_15 | TP53 | Heterozygous | c.C1101-2A>C | p.? | LOM |
| CO:HCT_15 | TP53 | Heterozygous | c.C722T | p.S241F | LOM |
| CO:HT29 | APC | Heterozygous | c.2557G>T | p.E853X | LOM |
| CO:HT29 | APC | Heterozygous | c.4666_4667insA | p.T1556fsX3 | LOM |
| CO:HT29 | BRAF | Heterozygous | c.1799T>A | p.V600E | LOM |
| CO:HT29 | PIK3CA | Heterozygous | c.1345C>A | p.P449T | LOM |
| CO:HT29 | SMAD4 | Homozygous | c.931C>T | p.Q311X | LOM |
| CO:HT29 | TP53 | Homozygous | c.818G>A | p.R273H | LOM |
| CO:KM12 | APC | Heterozygous | c.5454_5455insA | p.N1819fsX7 | TOV |
| CO:KM12 | BRCA2 | Heterozygous | c.5351delA | p.N1784fsX7 | TOV |
| CO:KM12 | PTEN | Heterozygous | c.385G>T | p.G129X | LOM |
| CO:KM12 | PTEN | Heterozygous | c.800 del A | p.K267fsX9 | LOM |
| CO:KM12 | TP53 | Heterozygous | c.215delG | p.R72fsX51 | TOV |
| CO:SW_620 | APC | Homozygous | c.4012C>T | p.Q1338X | LOM |
| CO:SW_620 | KRAS | Homozygous | c.35G>T | p.G12V | LOM |
| CO:SW_620 | TP53 | Homozygous | c.818G>A | p.R273H | LOM |
| CO:SW_620 | TP53 | Homozygous | c.925C>T | p.P309S | LOM |
| LC:A549 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| LC:A549 | KRAS | Homozygous | c.34G>A | p.G12S | LOM |
| LC:A549 | STK11 | Homozygous | c.109C>T | p.Q37X | LOM |
| LC:EKVX | TP53 | Homozygous | c.609_610GG>TT | p.E204X | LOM |
| LC:HOP_62 | CDKN2A | Homozygous | c. 1_471 del 471 | p.M1_ *157del | LOM |
| LC:HOP_62 | KRAS | Heterozygous | c.34G>T | p.G12C | LOM |
| LC:HOP_62 | TP53 | Homozygous | c.G673-2A>G | p.? | LOM |
| LC:HOP_92 | CDKN2A | Homozygous | c. 1_471 del 471 | p.M1_ *157del | LOM |
| LC:HOP_92 | TP53 | Homozygous | c.524G>T | p.R175L | LOM |
| LC:NCI_H226 | CDKN2A | Homozygous | c.1_150 del 150 | p.? | LOM |
| LC:NCI_H23 | KRAS | Heterozygous | c.34G>T | p.G12C | LOM |
| LC:NCI_H23 | STK11 | Homozygous | c.996G>A | p.W332X | LOM |
| LC:NCI_H23 | TP53 | Homozygous | c.738G>C | p.M246I | LOM |
| LC:NCI_H322M | TP53 | Homozygous | c.743G>T | p.R248L | LOM |
| LC:NCI_H460 | CDKN2A | Homozygous | c.del 1_457 del 457 | p.? | LOM |
| LC:NCI_H460 | KRAS | Homozygous | c.183A>T | p.Q61H | LOM |
| LC:NCI_H460 | PIK3CA | Heterozygous | c.1633G>A | p.E545K | LOM |
| LC:NCI_H460 | STK11 | Homozygous | c.109C>T | p.Q37X | LOM |
| LC:NCI_H522 | TP53 | Homozygous | c.572delC | p.P191fsX56 | LOM |
| LE:CCRF_CEM | CDKN2A | Homozygous | c. 1_471 del 471 | p.M1_ *157del | LOM |
| LE:CCRF_CEM | FLT3 | Heterozygous | c.1879G>A | p.A627T | TOV |
| LE:CCRF_CEM | KRAS | Heterozygous | c.35G>A | p.G12D | LOM |
| LE:CCRF_CEM | PTEN | Homozygous | c. del 80-492 | p.? | LOM |
| LE:CCRF_CEM | TP53 | Heterozygous | c.743G>A | p.R248Q | LOM |
| LE:CCRF_CEM | TP53 | Heterozygous | c.524G>A | p.R175H | LOM |
| LE:HL_60 | CDKN2A | Homozygous | c.238C>T | p.R80X | LOM |
| LE:HL_60 | NRAS | Heterozygous | c.182A>T | p.Q61L | LOM |
| LE:HL_60 | TP53 | Homozygous | c.1_1182del1182 | p.M1_*394del | LOM |
| LE:K_562 | CDKN2A | Homozygous | c. 1_471 del 471 | p.M1_ *157del | LOM |
| LE:K_562 | PDGFRA | Heterozygous | c.1653+1G>A | p.? | TOV |
| LE:K_562 | TP53 | Homozygous | c.406_407insC | p.Q136fsX13 | LOM |
| LE:MOLT_4 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| LE:MOLT_4 | NRAS | Heterozygous | c.34G>T | p.G12C | LOM |
| LE:MOLT_4 | PTEN | Homozygous | c.800delA | p.K267fsX9 | LOM |
| LE:MOLT_4 | STK11 | Heterozygous | c.640C>T | p.Q214X | TOV |
| LE:MOLT_4 | TP53 | Heterozygous | c.916C>T | p.R306X | TOV |
| LE:RPMI_8226 | EGFR | Heterozygous | c.2252C>T | p.T751I | TOV |
| LE:RPMI_8226 | KRAS | Heterozygous | c.35G>C | p.G12A | LOM |
| LE:RPMI_8226 | TP53 | Homozygous | c.853G>A | p.E285K | LOM |
| LE:SR | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| ME:LOXIMVI | BRAF | Heterozygous | c.1799T>A | p.V600E | LOM |
| ME:LOXIMVI | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| ME:M14 | BRAF | Heterozygous | c.1799T>A | p.V600E | LOM |
| ME:M14 | CDKN2A | Heterozygous | c.150+2 T>C | p.? | LOM |
| ME:M14 | CDKN2A | Heterozygous | c.456-+24 Aggtgaggactgatgatctgagaattt>C | p.? | LOM |
| ME:M14 | TP53 | Heterozygous | c.797G>A | p.G266E | LOM |
| ME:MALME_3M | BRAF | Heterozygous | c.1799T>A | p.V600E | LOM |
| ME:MALME_3M | CDKN2A | Homozygous | c. 1_471 del 471 | p.M1_ *157del | LOM |
| ME:MDA_MB_435 | BRAF | Heterozygous | c.1799T>A | p.V600E | LOM |
| ME:MDA_MB_435 | CDKN2A | Heterozygous | c.150+2 T>C | p.? | LOM |
| ME:MDA_MB_435 | CDKN2A | Heterozygous | c.456-+24 Aggtgaggactgatgatctgagaattt>C | p.? | LOM |
| ME:MDA_MB_435 | TP53 | Heterozygous | c.797G>A | p.G266E | LOM |
| ME:SK_MEL_2 | NRAS | Homozygous | c.182A>G | p.Q61R | LOM |
| ME:SK_MEL_2 | TP53 | Heterozygous | c.733G>A | p.G245S | LOM |
| ME:SK_MEL_28 | BRAF | Homozygous | c.1799T>A | p.V600E | LOM |
| ME:SK_MEL_28 | EGFR | Homozygous | c.2257C>T | p.P753S | TOV |
| ME:SK_MEL_28 | TP53 | Homozygous | c.435_436G>GT | p.L145R | LOM |
| ME:SK_MEL_5 | BRAF | Heterozygous | c.1799T>A | p.V600E | LOM |
| ME:SK_MEL_5 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| ME:UACC_257 | BRAF | Heterozygous | c.1799T>A | p.V600E | LOM |
| ME:UACC_62 | BRAF | Heterozygous | c.1799T>A | p.V600E | LOM |
| ME:UACC_62 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| ME:UACC_62 | PTEN | Homozygous | c.741_742insA | p.P248fsX5 | LOM |
| OV:IGROV1 | BRCA1 | Heterozygous | c.1961delA | p.K654fsX47 | TOV |
| OV:IGROV1 | PTEN | Heterozygous | c.955_958delACTT | p.T319fsX1 | TOV |
| OV:IGROV1 | SMAD4 | Heterozygous | c.692delG | p.G231fsX10 | TOV |
| OV:IGROV1 | TP53 | Heterozygous | c.377A>G | p.Y126C | LOM |
| OV:NCI_ADR_RES | ERBB2 | Heterozygous | c.2327G>T | p.G776V | TOV |
| OV:NCI_ADR_RES | TP53 | Homozygous | c.376-1G>A | p.? | LOM |
| OV:OVCAR_3 | TP53 | Homozygous | c.743G>A | p.R248Q | LOM |
| OV:OVCAR_4 | TP53 | Homozygous | c.388C>G | p.L130V | LOM |
| OV:OVCAR_5 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| OV:OVCAR_5 | KRAS | Homozygous | c.35G>T | p.G12V | LOM |
| OV:OVCAR_8 | ERBB2 | Heterozygous | c.2327G>T | p.G776V | TOV |
| OV:OVCAR_8 | TP53 | Homozygous | c.376-1G>A | p.? | LOM |
| OV:SK_OV_3 | CDKN2A | Homozygous | c.del 1_457 del 457 | p.? | LOM |
| OV:SK_OV_3 | PIK3CA | Heterozygous | c.3140A>G | p.H1047R | LOM |
| OV:SK_OV_3 | TP53 | Homozygous | c.del 267C | p.S90fsX33 | LOM |
| PR:DU_145 | CDKN2A | Homozygous | c.250G>T | p.D84Y | LOM |
| PR:DU_145 | RB1 | Homozygous | c.2143A>T | p.K715X | LOM |
| PR:DU_145 | STK11 | Homozygous | c.532_536delAAGCC | p.K178fsX86 | LOM |
| PR:DU_145 | TP53 | Heterozygous | c.820G>T | p.V274F | LOM |
| PR:PC_3 | PTEN | Homozygous | c.165-1026 del 862 | p.? | LOM |
| PR:PC_3 | TP53 | Homozygous | c.414delC | p.K139fsX31 | LOM |
| RE:786_0 | CDKN2A | Homozygous | c.1_150 del 150 | p.? | LOM |
| RE:786_0 | PTEN | Homozygous | c.445C>T | p.Q149X | LOM |
| RE:786_0 | TP53 | Heterozygous | c.832C>G | p. P278A | LOM |
| RE:786_0 | TP53 | Heterozygous | c. 560-2A>G | p.? | LOM |
| RE:786_0 | VHL | Homozygous | c.311delG | p.G105fsX55 | LOM |
| RE:A498 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| RE:A498 | VHL | Homozygous | c.426_429delTGAC | p.G144fsX14 | LOM |
| RE:ACHN | CDKN2A | Homozygous | c. 1_471 del 471 | p.M1_ *157del | LOM |
| RE:CAKI_1 | CDKN2A | Homozygous | c. 1_471 del 471 | p.M1_ *157del | LOM |
| RE:RXF_393 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
| RE:RXF_393 | PTEN | Homozygous | c.1_164 del 164 | p.? | LOM |
| RE:RXF_393 | TP53 | Homozygous | c.524G>A | p.R175H | LOM |
| RE:SN12C | TP53 | Homozygous | c.1006G>T | p.E336X | LOM |
| RE:TK_10 | TP53 | Heterozygous | c.791T>G | p.L264R | LOM |
| RE:UO_31 | CDKN2A | Homozygous | c.1_471 del 471 | p.M1_ *157del | LOM |
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