ABCMdb

PMID: 17159598

Deeken JF, Figg WD, Bates SE, Sparreboom A
Toward individualized treatment: prediction of anticancer drug disposition and toxicity with pharmacogenetics.
Anticancer Drugs. 2007 Feb;18(2):111-26., [PubMed]

Sentences

No. Mutations Sentence Comment

178 ABCG2 p.Cys55Ala ABCB1 p.Gly449Ala Table 5 Ethnic frequency (%) of allelic variants in CYP2C9 Allelic variant SNPs Caucasians African-Americans Asians Hispanics Africans CYP2C9*2 C430T 6.8-13.2 1.0-2.5 0 8.0 CYP2C9*3 A1075C 4.3-15.9 0.5-1.25 0-2.2 6.0 CYP2C9*5 C1080G 0 1.7 CYP2C9*7 C55A 7.1 CYP2C9*8 G449A 6.7 7.1 CYP2C9*9 A752G 0.5 13.3 14.3 CYP2C9*11 C1003T 1 CYP2C9*12 C1465T 0.5 SNP, single nucleotide polymorphism. Sources: Caucasians [51-54], African Americans [52,54,55], Asians [52,56], Hispanics [57], Africans [52]. Login to comment 326 ABCG2 p.Gln141Lys ABCG2 p.Val12Met ABCG2 p.Ile206Leu ABCG2 p.Asn590Tyr These SNPs occur at mRNA positions 34 (V12M; exon 2), 421 (Q141K, exon 16), 616 (I206L, exon 6) and 1768 (N590Y, exon 15). Login to comment 328 ABCG2 p.Val12Met ABCG2 p.Ile206Leu ABCG2 p.Asn590Tyr The SNPs of V12M, I206L and N590Y have not to date been found to confer an alteration in protein expression or function. Login to comment 329 ABCG2 p.Gln141Lys The nonsynonymous substitution C421A, in which a lysine is substituted for glutamine at codon 141 (Q141K), has been shown to have a functional significance. Login to comment 331 ABCG2 p.Gln141Lys ABCG2 p.Val12Met ABCG2 p.Ile206Leu ABCG2 p.Asn590Tyr Table 12 Ethnic frequencies (%) of allelic variants in ABCG2 gene Allelic variant Caucasians African-Americans Asians Hispanics Africans Middle Easterns V12M 2 4 20-45 40 5 Q141K 11-14 2.3-5.0 15-35 10 1.0 13 I206L 0 0 0 10 0 N590Y 1 Sources: [150-153]. Login to comment 334 ABCG2 p.Gln141Lys Plasma concentrations of orally administered drugs, including oral topotecan, are higher in patients with the Q141K SNP, which correlates with the protein`s role in drug excretion. Login to comment