ATM
| is a | gene |
| is | mentioned by |
| Full name | ataxia telangiectasia mutated |
| EntrezGene | 472 |
| PheGenI | 472 |
| VariationViewer | 472 |
| ClinVar | ATM |
| GeneCards | ATM |
| dbSNP | 472 |
| Diseases | ATM |
| SADR | 472 |
| HugeNav | 472 |
| wikipedia | ATM |
| ATM | |
| gopubmed | ATM |
| EVS | ATM |
| HEFalMp | ATM |
| MyGene2 | ATM |
| 23andMe | ATM |
| UniProt | Q13315 |
| Ensembl | ENSG00000149311 |
| OMIM | 607585 |
| # SNPs | 621 |
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:
- rs28904921, known as V2424G
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:
