|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
|
27595995 |
2016 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalence of deleterious ATM germline mutations in gastric cancer patients.
|
26506520 |
2015 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
|
24733792 |
2014 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
|
24418350 |
2014 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
|
22529920 |
2012 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rare variants in the ATM gene and risk of breast cancer.
|
21787400 |
2011 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
|
18634022 |
2009 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
|
19781682 |
2009 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
|
18634022 |
2009 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Attenuated presentation of ataxia-telangiectasia with familial cancer history.
|
18575927 |
2008 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Attenuated presentation of ataxia-telangiectasia with familial cancer history.
|
18575927 |
2008 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
|
17001622 |
2006 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry.
|
16958054 |
2006 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Dominant negative ATM mutations in breast cancer families.
|
11830610 |
2002 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The kinetics of p53 response was intermediate between normal and classical ataxia telangiectasia cells in both the 7271T-->G and 5762ins137 cells, but interestingly, c-Jun kinase activation following DNA damage was equally deficient in cell lines derived from all the ataxia telangiectasia patients.
|
11382771 |
2001 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
The kinetics of p53 response was intermediate between normal and classical ataxia telangiectasia cells in both the 7271T-->G and 5762ins137 cells, but interestingly, c-Jun kinase activation following DNA damage was equally deficient in cell lines derived from all the ataxia telangiectasia patients.
|
11382771 |
2001 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=.
|
9463314 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=.
|
9463314 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |