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ATM

From SNPedia

is agene
is mentioned by
Full nameataxia telangiectasia mutated
EntrezGene472
PheGenI472
VariationViewer472
ClinVarATM
dbSNP472
SADR472
HugeNav472
wikipediaATM
googleATM
gopubmedATM
EVSATM
HEFalMpATM
MyGene2ATM
23andMeATM
UniProtQ13315
EnsemblENSG00000149311
OMIM607585
# SNPs298
 Max MagnitudeChromosome positionSummary
rs1128056040108,227,889
rs11378870108,256,340
rs1214342160108,345,804
rs1214342170108,299,752
rs1214342180108,333,925
rs1214342190108,365,476
rs1214342200108,330,233
rs1214342210108,329,199
rs1214342220108,287,687
rs1214342230108,301,779
rs1397707210108,315,911
rs1475576210108,279,510
rs171743930108,353,881
rs17503908108,344,670
rs17997570108,279,481
rs18000541.5108,227,849
rs18000561.5108,267,276
rs18000571.5108,272,729
rs18000581.5108,289,623
rs18015162108,304,735
rs18016730108,304,736
rs189037108,223,106
rs1928102830108,271,407
rs2001967810108,284,474
rs2009760930108,284,411
rs2010891020108,247,128
rs2019635070108,310,287
rs2022065400108,316,069
rs22279240108,251,865
rs227060108,334,154
rs227062108,334,656
rs227092108,366,056
rs228589108,222,481
rs228590108,225,414
rs228591108,226,606
rs2676066680108,332,848
rs289049217108,329,202
rs28942101108,345,804
rs289421020108,199,923
rs289421030108,334,988
rs30928440108,368,580
rs30928560108,289,005
rs30928570108,272,572
rs32186950108,259,051
rs3218698108,279,481
rs32187070108,244,000
rs3716385370108,335,959
rs3732267930108,289,735
rs373759108,349,930
rs3761706000108,248,977
... 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: