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ATM

From SNPedia

is agene
is mentioned by
Full nameataxia telangiectasia mutated
EntrezGene472
PheGenI472
VariationViewer472
ClinVarATM
GeneCardsATM
dbSNP472
DiseasesATM
SADR472
HugeNav472
wikipediaATM
googleATM
gopubmedATM
EVSATM
HEFalMpATM
MyGene2ATM
23andMeATM
UniProtQ13315
EnsemblENSG00000149311
OMIM607585
# SNPs612
 Max MagnitudeChromosome positionSummary
rs1057516229
rs1057516235
rs1057516238
rs1057516250
rs1057516282
rs1057516301
rs1057516311
rs1057516358
rs1057516393
rs1057516442
rs1057516446
rs1057516525
rs1057516537
rs1057516540
rs1057516541
rs1057516553
rs1057516590
rs1057516599
rs1057516620
rs1057516683
rs1057516721
rs1057516833
rs1057516876
rs1057516905
rs1057516944
rs1057516981
rs1057517025
rs1057517097
rs1057517100
rs1057517101
rs1057517120
rs1057517129
rs1057517213
rs1057517226
rs1057517248
rs1057517253
rs1057517300
rs1057517302
rs1057517358
rs1057517427
rs1057517452
rs1057518965
rs1057519330
rs1057519364
rs1057520640
rs1057520672
rs1057520704
rs1060499575
rs1060499600
rs1060499601
... further results

The Ataxia telangiectasia mutated ATM gene is a serine/threonine protein kinase that phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis. Several of these targets, including p53, CHK2 and H2AX are tumor suppressors. The protein is named for the disorder Ataxia telangiectasia caused by mutations of ATM.Wikipedia

In addition to the rare (recessive) mutations leading to ataxia telangiectasia, there are ATM gene variants that influence risk for various cancers, and in particular, breast cancer.

Among the high risk (causative/pathogenic) ATM mutations, meaning those that increase relative risk for breast cancer four fold or more, are:


Far less clinically important are more common polymorphisms that only slightly (i.e. less than double) raise the relative risk for breast cancer; these SNPs include: