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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
# SNPs613
 Max MagnitudeChromosome positionSummary
rs10181407790108,329,097
rs10575162290108,347,367
rs10575162350108,327,760
rs10575162380108,287,599
rs10575162500108,271,328
rs10575162820108,365,401
rs10575163010108,279,521
rs10575163110108,289,611
rs10575163580108,299,838
rs10575163930108,256,255
rs10575164420108,245,002
rs10575164460108,279,557
rs10575165250108,315,913
rs10575165370108,365,081
rs10575165400108,302,849
rs10575165410108,284,360
rs10575165530108,258,984
rs10575165900108,271,397
rs10575165990108,332,853
rs10575166200108,256,225
rs10575166830108,244,044
rs10575167210108,251,970
rs10575168330108,329,097
rs10575168760108,251,884
rs10575169050108,321,331
rs10575169440108,267,310
rs10575169810108,281,133
rs10575170250108,332,016
rs10575170970108,272,799
rs10575171000108,284,470
rs10575171010108,302,884
rs10575171200108,317,522
rs10575171290108,282,736
rs10575172130108,284,225
rs10575172260108,282,709
rs10575172480108,256,215
rs10575172530108,271,102
rs10575173000108,252,870
rs10575173020108,319,953
rs10575173580108,252,815
rs10575174270108,297,383
rs10575174520108,293,396
rs10575189650108,244,812
rs10575193300108,249,059
rs10575193640108,253,839
rs10575206400108,287,712
rs10575206720108,347,335
rs10575207040108,316,009
rs10604995750108,343,372
rs10604996000108,244,947
... 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: