ABCMdb

PMID: 17148776

Cusatis G, Gregorc V, Li J, Spreafico A, Ingersoll RG, Verweij J, Ludovini V, Villa E, Hidalgo M, Sparreboom A, Baker SD
Pharmacogenetics of ABCG2 and adverse reactions to gefitinib.
J Natl Cancer Inst. 2006 Dec 6;98(23):1739-42., 2006-12-06 [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCG2 p.Gln141Lys One variant, a common functional single-nucleotide polymorphism (SNP) in the ABCG2 gene, was associated with diarrhea in 124 patients treated with oral gefitinib 250 mg once daily; seven (44%) of 16 patients heterozygous for ABCG2 421C>A (Q141K) developed diarrhea, versus only 13 (12%) of 108 patients homozygous for the wild-type sequence (P = .0046). Login to comment 21 ABCG2 p.Gln141Lys In particular, a functional single-nucleotide polymorphism (SNP) has been identified in exon 5 of the ABCG2 gene, in which a C → A nucleotide transition at position 421 (ABCG2 421C>A) results in a nonsynonymous variant protein in which a glutamine at position 141 is changed to lysine (Q141K) (15). Login to comment 64 ABCG2 p.Gln141Lys The mechanism underlying the functional impact of the ABCG2 Q141K amino acid change is not entirely known, but it is most likely associated with reduced protein levels and altered ATPase activity and not with a change in localization of the protein (14). Login to comment