Table 2

Overview of TP53 mutations found

Characterization and distribution of TP53 mutations in breast carcinomas with respect to genotype of the codon 72 polymorphism. The heterozygote samples that were cloned and sequenced to determine which allele of the codon 72 the mutation resided on are shown in bold and the respective allele underlined. (The sample IDs are designated MT and ULL for the two consecutive series, and LB and FU for the advanced breast cancer series.)

Sample IDGenotypeMutationCodonCodon changeBase changeAminoacidType
Codon 72Exon
ULL-T-271Arg /Arg3291bp insins AFrameshift
ULL-T-177Arg /Arg4110CGT > CCTG > CArg > ProMissense
LB 105 AArg /Arg<51 bp upstreamIntronicG > ASplice
ULL-T-096Arg /Arg518 bp insIn frame
ULL-T-038Arg /Arg5138GCC > GTCC > TAla > ValMissense
LB 101 AArg /Arg5151CCC > TCCC > TPro > SerMissense
MT 064Arg /Arg5156CGC > CCCG > CArg > ProMissense
ULL-T-106Arg /Arg5159GCC > GACC > AAla > AspMissense
LB 703 BArg /Arg5168CAC > CCCA > CHis > ProMissense
ULL-T-099Arg /Arg5173GTG > CTGG > CVal > LeuMissense
MT 193Arg /Arg5174–18017 bp delFrameshift
FU M312Arg /Arg5175CGC > CACG > AArg > HisMissense
MT 083Arg /Arg5175CGC > CACG > AArg > HisMissense
ULL-T-171Arg /Arg5175CGC > CACG > AArg > HisMissense
LB 205 AArg /Arg5176TGC > TTCG > TCys > PheMissense
MT 101Arg /Arg5181CGC > CACG > AArg > HisMissense
FU 07Arg /Arg<63 bp upstreamIntronicT > GSplice
LB 307 BArg /Arg6190CCT > CTTC > TPro > LeuMissense
MT 120Arg /Arg6194CTT > CGTT > GLeu > ArgMissense
FU 23Arg /Arg6195ATC > ACCT > CIle > ThrMissense
ULL-T-179Arg /Arg619622 bp delFrameshift
FU M307Arg /Arg6197–1996 bp delIn frame
LB 111 AArg /Arg6204GAG > TAGG > TGlu > StopNonsense
MT 078Arg /Arg6204GAG > TAGG > TGlu > StopNonsense
LB 805 AArg /Arg6213CGA > TGAC > TArg > StopNonsense
ULL-T-188Arg /Arg6216GTG > ATGG > AVal > MetMissense
FU M326Arg /Arg6217GTG > ATGG > AVal > MetMissense
LB 123 AArg /Arg6217–22114 bp delFrameshift
MT 106Arg /Arg7238TGT > TTTG > TCys > PheMissense
LB 305 AArg /Arg7239–24211 bp delFrameshift
MT 050Arg /Arg7242TGC > TTCG > TCys > PheMissense
MT 359Arg /Arg7242TGC > TACG > ACys > TyrMissense
MT 135Arg /Arg7244–2478 bp delFrameshift
MT 161Arg /Arg7245GGC > AGCG > AGly > SerMissense
LB 309 AArg /Arg7248CGG > CAGG > AArg > GlnMissense
MT 024Arg /Arg7248CGG > CAGG > AArg > GlnMissense
ULL-T-250Arg /Arg7248CGG > CAGG > AArg > GlnMissense
MT 160Arg /Arg7248CGG > TGGC > TArg > TrpMissense
LB 111 BArg /Arg7249AGG > GGGA > GArg > GlyMissense
MT 071Arg /Arg7251ATCdel CFrameshift
FU 27Arg /Arg725612 bp insIn frame
FU M327Arg /Arg8261–26924 bp delIn frame
LB 120 AArg /Arg8266GGA > AGAG > AGly > ArgMissense
FU 26Arg /Arg8273CGT > CCTG > TArg > ProMissense
LB 107 BArg /Arg8273CGT > CATG > AArg > HisMissense
LB 208 AArg /Arg8273CGT > CATG > AArg > HisMissense
LB 405 AArg /Arg8273CGT > CATG > AArg > HisMissense
FU M310Arg /Arg8273CGT > CATG > LAArg > HisMissense
FU M321Arg /Arg8273CGT > TGTC > TArg > CysMissense
MT 029Arg /Arg8273CGT > CATG > AArg > HisMissense
MT 240Arg /Arg8273CGT > CATG > AArg > HisMissense
ULL-T-164Arg /Arg8273CGT > CATG > AArg > HisMissense
ULL-T-071Arg /Arg8273CGT > GGTC > GArg > GlyMissense
LB 706 AArg /Arg8277TGT > TATG > ACys > TyrMissense
ULL-T-215Arg /Arg8278CCT > CTTC > TPro > LeuMissense
MT 119Arg /Arg8281GAC > GGCA > GAsp > GlyMissense
FU 12Arg /Arg8282CGG > GGGC > GArg > GlyMissense
MT 181Arg /Arg8282CGG > CAGG > AArg > GlnMissense
ULL-T-154Arg /Arg8282CGG > TGGC > TArg > TrpMissense
MT 003Arg /Arg8285GAG > AAGG > AGlu > LysMissense
LB 404 BArg /Arg8286GAA > AAAG > AGlu > CysMissense
LB 406 AArg /Arg<92 bp upstreamIntronicA > GSplice
FU M317Arg /Arg<92 bp upstreamIntronicA > GSplice
FU 04Arg /Arg>91 bp downstreamIntronicG > CSplice