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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
rs1057516229108,347,367
rs1057516235108,327,760
rs1057516238108,287,599
rs1057516250108,271,328
rs1057516282108,365,401
rs1057516301108,279,521
rs1057516311108,289,611
rs1057516358108,299,838
rs1057516393108,256,255
rs1057516442108,245,002
rs1057516446108,279,557
rs1057516525108,315,913
rs1057516537108,365,081
rs1057516540108,302,849
rs1057516541108,284,360
rs1057516553108,258,984
rs1057516590108,271,397
rs1057516599108,332,853
rs1057516620108,256,225
rs1057516683108,244,044
rs1057516721108,251,970
rs1057516833108,329,097
rs1057516876108,251,884
rs1057516905108,321,331
rs1057516944108,267,310
rs1057516981108,281,133
rs1057517025108,332,016
rs1057517097108,272,799
rs1057517100108,284,470
rs1057517101108,302,884
rs1057517120108,317,522
rs1057517129108,282,736
rs1057517213108,284,225
rs1057517226108,282,709
rs1057517248108,256,215
rs1057517253108,271,102
rs1057517300108,252,870
rs1057517302108,319,953
rs1057517358108,252,815
rs1057517427108,297,383
rs1057517452108,293,396
rs1057518965108,244,812
rs1057519330108,249,059
rs1057519364108,253,839
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: