rs1801516
This is a variant in the ATM gene that changes a aspartate to an asparagine.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cutaneous melanoma
nevus count, cutaneous melanoma
aspartate aminotransferase measurement
▶ClinVar annotation
ATM-related cancer predisposition; Ataxia-telangiectasia syndrome (AT); Familial cancer of breast; Hereditary breast ovarian cancer syndrome; Hereditary cancer-predisposing syndrome; not specified
View on ClinVar →▶Research that mentions this SNP (3)
▶Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor statusAssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis
A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).
▶Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancerAssociationN=1,025Schrauder M. et al.(2008)· Journal of Cancer Research and Clinical Oncology
A hospital-based case-control study of 514 breast cancer patients and 511 matched controls examined the ATM polymorphism 5557G>A (D1853N, rs1801516). The ATM genotype was weakly associated with breast cancer risk (P = 0.04), with heterozygous carriers showing reduced risk (OR = 0.70, 95% CI 0.52-0.94) and homozygous variant carriers showing further reduction (OR = 0.63, 95% CI 0.27-1.49). No significant associations were found for disease-free or overall survival.
▶ATM sequence variants associate with susceptibility to non‐small cell lung cancerAssociationN=1,112Hushan Yang et al.(2007)· International Journal of Cancer
This case-control study of 556 Caucasian NSCLC patients and 556 matched controls examined 11 ATM gene polymorphisms. Homozygous variant genotypes of ATM08 (rs227060) and ATM10 (rs170548) were associated with elevated NSCLC risk (ORs 1.55 and 1.51, respectively). ATM haplotype H5 was protective in former smokers (OR 0.47), while diplotypes H2-H2 and H3-H4 showed increased risk (ORs 1.58 and 2.29). Comet assay confirmed that homozygous variant carriers exhibited significantly increased radiation-induced DNA damage, supporting a mechanism through impaired DNA repair capacity.
About ATM
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
View all ATM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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