ABCMdb

PMID: 22980976

Govindan R, Ding L, Griffith M, Subramanian J, Dees ND, Kanchi KL, Maher CA, Fulton R, Fulton L, Wallis J, Chen K, Walker J, McDonald S, Bose R, Ornitz D, Xiong D, You M, Dooling DJ, Watson M, Mardis ER, Wilson RK
Genomic landscape of non-small cell lung cancer in smokers and never-smokers.
Cell. 2012 Sep 14;150(6):1121-34. doi: 10.1016/j.cell.2012.08.024., [PubMed]

Sentences

No. Mutations Sentence Comment

69 ABCB5 p.Ser584Gly Lastly, our recurrent screening (n = 96) for mutations in DACH1 identified two more nonsilent mutations, including one missense mutation (D584G) and one nonsense mutation (G430*). Login to comment 72 ABCB5 p.Pro687Ser ABCB5 p.Ala580Ser ABCB5 p.Lys521Leu ABCB5 p.Glu347Arg We also discovered three samples with nonsynonymous point mutations (LUC11: G347R, LUC12: M521L, and LUC9: P580S and A687S) in the ABCB5 gene, which encodes a membrane transporter protein belonging to the ATP-binding cassette (ABC) protein family. Login to comment 76 ABCC7 p.Met82Val ABCC7 p.Arg170Leu ABCC7 p.Ala309Ser ABCC7 p.Phe354Ile We identified five point mutations involving the CFTR gene in four samples; these included four missense (LUC18: M82V, LUC9: R170L, F354I, and A309S from panel screening) and one nonsense (LUC18: S478*) mutations. Login to comment 77 ABCC7 p.Met82Val Two of the five point mutations involving CFTR (M82V and S478*) have been previously reported in patients with cystic fibrosis (Koukourakis et al., 2003). Login to comment 78 ABCC7 p.Gly551Asp Recently, drugs that target specific CFTR point mutations (G551D and other nonsense mutations) have shown therapeutic benefit in patients with cystic fibrosis (Ramsey et al., 2011). Login to comment