Tuesday, 27 June 2017

Sarcoma

Sarcoma


Table I : cell lines with wt p53
Cell line
ATCC
 
Reference
FPBH Ewing sarcoma 
SAL-2 Ewing sarcoma 
STA-ET-1 Ewing sarcoma 
WE-68 Ewing sarcoma 
VH-64 Ewing sarcoma 
STA-ET-6 Ewing sarcoma 
TC 252 Ewing sarcoma 
    
U2OS*HTB-96Osteosarcoma 
SJSA**CRL-2098Osteosarcoma 
    
HT1080CCL-121Fibosarcoma 
    
A-204 Undifferentiated sarcoma 
    
           
* Mdm2 overexpression
**Mdm2 amplification
Table II : cell lines with p53 gene deletion or rearrangement
Cell line
ATCC
 
Reference
Saos-2HTB-85Osteosarcoma 
SK-N-MCHTB-10Ewing sarcoma 
Table III : cell lines with p53 splice mutation
(exonic mutations that modify splice are listed in table IV)
no data
Table IV: cell lines with p53 mutations (missense or frameshift)
More information is available in the handbook
Pos: Codon position (1 to 393);
WT: Normal base sequence of the codon in which the mutation occurred;
Mut Sequence of the mutated codon. If the mutation is a deletion or an insertion, it is indicated by "del" or "ins" followed by the number of deleted or inserted bases. The position in the codon is indicated by “a”, “b”, or “c” for the first, second or third base of the codon respectively. Example: "del66b" is a deletion of 66 bases including the second base of the codon; "ins4a" is an insertion of 4 bases occurring between the first and the second base of the codon. Label a, b, or c is omitted if the boundary of the deletion or insertion is unknown
AA: Wild type amino acid;
Mut: Mutant amino acid. Stop: nonsense mutation: Fs.: Frameshift mutation: InF: In-frame insertion or deletion;
Comp: complexity of the mutation: SM: Single mutational event in the tumor; DMU (Double Mutation Unknown): Two p53 mutations in the same tumor but their allelique distribution is unknown; DMD (Double Mutation Different allele): Two p53 mutations in the same tumor on two different p53 alleles; DMS (Double Mutation Same allele): Two p53 mutations in the same tumor on the same p53 allele: MM (Multiple Mutation): More than two p53 mutations in the same tumor;
NB: Number of tumors with this particular mutant in the database;
Ref: reference number;
Comments: information;
Table of references (available also in the handbook)
Pos.WTMut      AAMutCompNameNBRefComments
Angiosarcoma (hepatic)
179CATCTTHisLeuSMASL5381353Single report
Chondrosarcoma
175CGCCACArgHisSMCH-111871373Single report
Ewing's Sarcoma
194CTTCGTLeuArgSM1966328Single report
175CGCCACArgHisSM581187328Single report
176TGCTTCCysPheSM59191328Single report
273CGTTGTArgCysSM63687328Single report
285GAGAAGGluLysSM64165328Single report
118ACAins2ThrFs.SMA6731226wt in COSMIC
283CGCDEL1CArgFs.SMES-1-OT4245Single report
181CGCCACArgHisSMEW-13342249Mutation in COSMIC database
164AAGGAGLysGluSMEW-24252249Mutation in COSMIC database
273CGTTGTArgCysSMIARC-EW2687226Single report
273CGTTGTArgCysSMRD-ES687226Confirmed in another publication
273CGTCATArgHisSMRM 82780226Single report
176TGCTTCCysPheSMSCMC-ES-2191245Single report
141TGCTACCysTyrSMSCMCS-ES-1103245Single report
176TGCTTCCysPheSMSK-ES-1191226Confirmed in another publication
176TGCTTCCysPheSMSK-PN-DW1912249Mutation in COSMIC database
273CGTTGTArgCysSMSMB687226Single report
277TGTTATCysTyrSMSTA-ET-2.128226Single report
273CGTTGTArgCysSMSTA-ET-7.1687226Single report
176TGCTTCCysPheSMW-ES191245Single report
Fibrosarcoma
213CGATGAArgStopSMSW6843062249Mutation in COSMIC database
Leyomyosarcoma
215AGTins1SerFs.SMLMS6-9331552Single report
237ATGAAGMetLysDMUSK-LMS-1112198Controversy with other publications
245GGCAGCGlySerSMSK-LMS-144014Controversy with other publications
245GGCAGCGlySerDMUSK-LMS-14402198Controversy with other publications
175CGCCACArgHisDMUSK-UT-111872249Controversy with other publications
175CGCCACArgHisSMSK-UT-1118714Controversy with other publications
248CGGCAGArgGlnDMUSK-UT-18832249Controversy with other publications
Liposarcoma
251ATCAACIleAsnSMSW872212249Mutation in COSMIC database
Osteosarcoma
156CGCCCCArgProSMHOS3825Confirmed in another publication
306CGATGAArgStopSMHOSM-21601920Single report
76GCAins1aAlaFs.SMHuO-3N112249Mutation in COSMIC database
286GAAAAAGluLysSMOH86272Single report
250CCCdel8ProFs.SMRIT-1B165Single report
245GGCAGCGlySerSMRIT244065Single report
Rhabdomyosarcoma
219CCCdel4ProFs.SMctr197Single report
248CGGTGGArgTrpSMRD72814Confirmed in another publication. wt in COSMIC
273CGTTGTArgCysSMRh306871190Controversy with other publications
280AGAAGTArgSerSMRH301497Controversy with other publications
156CGCCCCArgProSMRMS3814Single report
Sarcoma
316CCCCCTProProSMGCT62249Mutation in COSMIC database
317CAGTAGGlnStopSMGCT252249Mutation in COSMIC database
326GAATAAGluStopSMS-11792249Mutation in COSMIC database


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