Mutations Identified in the PTEN, PIK3CA, RAS, and BRAF Genes in Human Breast Cancer Cell Lines
Breast Cancer Cell Line | Affected Gene | Gene Sequence | Transcript Sequence | Predicted Protein Effect* | Oncogenic |
---|---|---|---|---|---|
HCC1937† | PTEN | HD Ex. 1-9‡ | Not detectable | No expression | Yes |
MDA-MB-468† | PTEN | IVS4+1G>T‡ | c.del210_253 (Ex. 4) | A72fsX5 | Yes |
BT549† | PTEN | 821delG‡ | 821delG | V275X | Yes |
EVSA-T | PTEN | 951delACTT‡ | 951delACTT | T319X | Yes |
CAMA-1 | PTEN | 274G>C§ | 274G>C | D92H | Yes |
802insTAGG/ | Not detectable | No expression | Yes | ||
834delCTTC§ | |||||
ZR-75-1† | PTEN | 323T>G‡ | 323T>G | L108R | Likely |
MDA-MB-415† | PTEN | 407G>A‡ | 407G>A | C136Y | Yes |
MDA-MB-453 | PTEN | 919G>A | 919G>A | E307K | Likely |
BT474† | PIK3CA | 333G>C | NA | K111N | Yes |
BT20† | PIK3CA | 1616C>G | NA | P539R | Yes |
BT483† | PIK3CA | 1624G>A | NA | E542K | Yes |
MCF-7† | PIK3CA | 1633G>A | NA | E545K | Yes |
MDA-MB-361† | PIK3CA | 1633G>A | NA | E545K | Yes |
MDA-MB-361 | PIK3CA | 1700A>G | NA | K567R | Likely |
BT20† | PIK3CA | 3140A>G | NA | H1047R | Yes |
MDA-MB-453† | PIK3CA | 3140A>G | NA | H1047R | Yes |
OCUB-F | PIK3CA | 3140A>G‡ | NA | H1047R | Yes |
SK-BR-5 | PIK3CA | 3140A>G | NA | H1047R | Yes |
SUM102PT† | PIK3CA | 3140A>G | NA | H1047R | Yes |
SUM185PE† | PIK3CA | 3140A>G‡ | NA | H1047R | Yes |
SUM190PT† | PIK3CA | 3140A>G | NA | H1047R | Yes |
T47D† | PIK3CA | 3140A>G | NA | H1047R | Yes |
UACC893† | PIK3CA | 3140A>G | NA | H1047R | Yes |
SUM159PT† | PIK3CA | 3140A>T | NA | H1047L | Yes |
MDA-MB-134VI† | KRAS | 34G>C | NA | G12R | Yes |
SK-BR-7 | KRAS | 34G>T | NA | G12C | Yes |
SUM229PE | KRAS | 35G>A | NA | G12D | Yes |
MPE600 | KRAS | 35G>T | NA | G12V | Yes |
MDA-MB-231† | KRAS | 38G>A | NA | G13D | Yes |
Hs578T† | HRAS | 35G>A | NA | G12D | Yes |
SUM159PT | HRAS | 35G>A | NA | G12D | Yes |
SK-BR-7 | NRAS | 182A>G | NA | Q61R | Yes |
ZR-75-30† | BRAF | 977T>C | NA | I326T | Unknown |
MDA-MB-231 | BRAF | 1391G>T | NA | G464V | Yes |
DU4475 | BRAF | 1799T>A | NA | V600E | Yes |
MDA-MB-435s | BRAF | 1799T>A | NA | V600E | Yes |
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.