ABCMdb

PMID: 22515603

Ishikawa T
Recent advances in pharmacogenomics of ABC transporters involved in breast cancer therapy.
Pharmacogenomics. 2012 Apr;13(6):633-6., [PubMed]

Sentences

No. Mutations Sentence Comment

43 ABCG2 p.Gln141Lys ABCG2 p.Gln141Lys The most extensively studied among those SNPs with potential clinical relevance is 421C>A resulting in a glutamic acid to lysine substitution (Q141K) in the ABCG2 protein. The expression level of the Q141K variant reduced compared with the wild-type, which is due to its ubiquitin-mediated proteasomal degradation [10]. Login to comment 45 ABCG2 p.Gln141Lys Furthermore, the Q141K SNP was reportedly associated with a higher incidence of diarrhea in non-small-cell lung cancer patients treated with gefitinib [11]. Login to comment 62 ABCC11 p.Gly180Arg On the other hand, one nonsynonymous SNP, 538G>A (Gly180Arg), in the ABCC11 gene greatly affects the function and stability of the de novo synthesized variant protein. The SNP (Arg180) variant is recognized as a misfolded protein in the endoplasmic reticulum and readily undergoes proteasomal degradation. Login to comment 138 ABCC11 p.Gly180Arg 21 Lang T, Justenhoven C, Winter S et al. The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans. Login to comment