Table 1.

Mutations Identified in the PTEN, PIK3CA, RAS, and BRAF Genes in Human Breast Cancer Cell Lines

Breast Cancer Cell LineAffected GeneGene SequenceTranscript SequencePredicted Protein Effect*Oncogenic
HCC1937PTENHD Ex. 1-9Not detectableNo expressionYes
MDA-MB-468PTENIVS4+1G>Tc.del210_253 (Ex. 4)A72fsX5Yes
BT549PTEN821delG821delGV275XYes
EVSA-TPTEN951delACTT951delACTTT319XYes
CAMA-1PTEN274G>C§274G>CD92HYes
802insTAGG/Not detectableNo expressionYes
834delCTTC§
ZR-75-1PTEN323T>G323T>GL108RLikely
MDA-MB-415PTEN407G>A407G>AC136YYes
MDA-MB-453PTEN919G>A919G>AE307KLikely
BT474PIK3CA333G>CNAK111NYes
BT20PIK3CA1616C>GNAP539RYes
BT483PIK3CA1624G>ANAE542KYes
MCF-7PIK3CA1633G>ANAE545KYes
MDA-MB-361PIK3CA1633G>ANAE545KYes
MDA-MB-361PIK3CA1700A>GNAK567RLikely
BT20PIK3CA3140A>GNAH1047RYes
MDA-MB-453PIK3CA3140A>GNAH1047RYes
OCUB-FPIK3CA3140A>GNAH1047RYes
SK-BR-5PIK3CA3140A>GNAH1047RYes
SUM102PTPIK3CA3140A>GNAH1047RYes
SUM185PEPIK3CA3140A>GNAH1047RYes
SUM190PTPIK3CA3140A>GNAH1047RYes
T47DPIK3CA3140A>GNAH1047RYes
UACC893PIK3CA3140A>GNAH1047RYes
SUM159PTPIK3CA3140A>TNAH1047LYes
MDA-MB-134VIKRAS34G>CNAG12RYes
SK-BR-7KRAS34G>TNAG12CYes
SUM229PEKRAS35G>ANAG12DYes
MPE600KRAS35G>TNAG12VYes
MDA-MB-231KRAS38G>ANAG13DYes
Hs578THRAS35G>ANAG12DYes
SUM159PTHRAS35G>ANAG12DYes
SK-BR-7NRAS182A>GNAQ61RYes
ZR-75-30BRAF977T>CNAI326TUnknown
MDA-MB-231BRAF1391G>TNAG464VYes
DU4475BRAF1799T>ANAV600EYes
MDA-MB-435sBRAF1799T>ANAV600EYes
  • Abbreviations: HD, homozygous deletion; Ex., exon; IVS, intervening sequence; del, deletion; ins, insertion; NA, not analyzed.

  • * Frameshift mutations are indicated by the first changed codon and the number of newly encoded codons, including premature termination codon X.

  • Cell lines were reported to be mutated in references (17, 26, 37, 45-49).

  • Mutations were homozygous based on sequence analysis and confirmed with polymorphic markers.

  • § Mutations are heterozygous but are located on different alleles.