Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin. | 23585524 | 2013 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele. | 21933854 | 2012 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. | 22529920 | 2012 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy. | 19404735 | 2010 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Modeling ATM mutant proteins from missense changes confirms retained kinase activity. | 19431188 | 2009 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion. | 17968022 | 2007 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma. | 12697903 | 2003 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma. | 12149228 | 2002 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances. | 11756177 | 2002 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. | 10397742 | 1999 |