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PMID: 18681776
Cusatis G, Sparreboom A
Pharmacogenomic importance of ABCG2.
Pharmacogenomics. 2008 Aug;9(8):1005-9.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
24
ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18681776:24:165
status:
VERIFIED
view ABCG2 p.Gln141Lys details
In particular, a SNP in exon 5 of the ABCG2 gene has been described, in which a 421C>A transversion results in a lysine to glutamine amino acid change at codon 141 (
Q141K
) [12].
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27
ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 18681776:27:169
status:
VERIFIED
view ABCG2 p.Val12Met details
ABCG2 p.Ile206Leu
X
ABCG2 p.Ile206Leu 18681776:27:189
status:
VERIFIED
view ABCG2 p.Ile206Leu details
ABCG2 p.Asn590Tyr
X
ABCG2 p.Asn590Tyr 18681776:27:214
status:
VERIFIED
view ABCG2 p.Asn590Tyr details
Several other SNPs have been identified in coding regions of the gene, and at least three additional nonsynonymous SNPs have been identified, occurring at positions 34 (
V12M
, exon 2), 616 (
I206L
, exon 6) and 1768 (
N590Y
, exon 15).
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33
ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18681776:33:1407
status:
VERIFIED
view ABCG2 p.Gln141Lys details
Substrates • 9-aminocamptothecin, abacavir, bisantrene, BNP1350, chlorin E6, CI1033, ciprofloxacin, cladribine, daunorubicin, diflomotecan (BN-80915), dipyridamole, doxorubicin, DX-8951f, edevarone (metabolites), epirubicin, erlotinib, etoposide, flavopiridol, gefitinib, gimatecan, glyburide, GW1843, heterocyclic amines, homocamptothecin, imatinib, J-107088, JNJ-7706621, leflunomide, methotrexate, mitoxantrone, NB-506, nelfinavir, nitrofurantoin, norfloxacin, ofloxacin, olmesartan, pheophorbide A, pitavastatin, posuvastatin, protoporphyrin IX, pyropheophorbide A, SN-38 (irinotecan metabolite), sulfasalazine, teniposide, tomudex, topotecan, triglutamate, UCN-01, zidovudine Inhibitors • 17-β-estradiol, 6-prenlychrysin, abacavir, acacetin, amprenavir, atazanavir, biricodar (VX-710), chrysin, CI1033, curcumin, cyclosporin A, delavirdine, diethylstilbestrol, dihydropyridines, dipyridamole, efavirenz, elacridar (GF120918), estrone, fumitremorgin C (FTC), gefitinib, genistein, ginsenosides, imatinib, Ko143 (FTC analog), lopinavir, naringenin, nelfinavir, nicardapine, nimodipine, nitrendipine, novobiocin, ortataxel, pantoprazole, quercetin, reserpine, ritonavir, rosuvastatin, saquinavir, silymarin, sirolimus (rapamycin), tacrolimus, tamoxifen, tariquidar (XR9576), techochrysin, tryprostatin A, WK-X-34 demonstrated that subjects with a reduced ABCG2 activity owing to the
Q141K
variant are at an increased risk for gefitinib-induced diarrhea [17] (Figure 1), and altered pharmacokinetics of 9-aminocamptothecin [18], diflomotecan [19], irinotecan [20], rosuvastatin [21], sulfasalazine [22,23] and topotecan [24].
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