rs2227928, also known as Ex4+340C>T or T211M, is a SNP in the ATR gene.
Although not significant on it's own, as 1 of 3 SNPs its risk allele (rs2227928(C)) is associated with poorer overall survival for pancreatic cancer patients being treated with combined gerncitabine radiation therapy. Median overall survival times of 31.0, 16.2, and 10.5 months were calculated for pancreatic cancer patients carrying < or = 1, 2, and 3 risk alleles from rs664143(C), rs2227928(C), and rs521102(T;T), respectively (P=0.004). [PMID 18381943]
|Disease Association||Defects in ATR are a cause of Seckel syndrome 1 (SCKL1) (MIM:210600). SCKL1 is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance.|
[PMID 17010193] Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18551366] Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk.
|qualified_impact||Insufficiently evaluated not reviewed|
|CLNSRC||ClinVar Emory University University of Chicago|