|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although not significant (p = 0.045; chi 2 test), some sporadic breast carcinomas (14 of 42) also had reduced or absent ATM protein immunoreactivity.
|
10748873 |
1999 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility.
|
27913932 |
2017 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Breast cancer in female carriers of ATM gene alterations: outcome of adjuvant radiotherapy.
|
15450731 |
2004 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Significant association to BC predisposition was observed for <i>ATM, PALB2, TP53, RAD51C</i> and <i>CHEK2</i> PVs.
|
31300551 |
2020 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, large epidemiological and molecular studies have finally provided conclusive evidence that ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.
|
16998505 |
2006 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BRCA1 and BRCA2 account for approximately 50% of breast cancer families with more than four affected cases, whereas exonic mutations in p53, PTEN, CHK2 and ATM may account for a very small proportion.
|
11597326 |
2001 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Breast cancer occurring in carriers of ATM variants is not associated with distinctive histopathological features and does not resemble the tumour phenotype commonly observed in BRCA1 mutation carriers.
|
17064299 |
2006 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We estimated the cumulative risk of BC in heterozygous ATM mutation carriers to be 6.02% by 50 years of age (95% credible interval: 4.58-7.42%) and 32.83% by 80 years of age (95% credible interval: 24.55-40.43%).
|
27112364 |
2016 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that ATM D1853N polymorphism is not a risk factor for developing breast cancer.
|
20799949 |
2010 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have determined the spectrum and frequency of ATM missense variants in 443 breast cancer patients diagnosed before age 50, including 247 patients who subsequently developed CBC.
|
17393301 |
2008 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this large combined analysis, these five missense ATM SNPs were associated with a small increased risk of breast cancer, explaining an estimated 0.03% of the excess familial risk of breast cancer.
|
20826828 |
2010 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10<sup>-5</sup>), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10<sup>-8</sup>) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012).
|
27595995 |
2016 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Since c.7271T>G is only one of many rare ATM variants predicted to have deleterious consequences on protein function, an effective means of identifying and grouping these variants is essential to assess the contribution of ATM variants to individual risk and to the incidence of breast cancer in the population.
|
16958054 |
2006 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In summary, the meta-analysis suggest that ATM 5557G>A polymorphism is associated with increased breast cancer risk among Amerindians.
|
21603857 |
2012 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Several epidemiological studies on ataxia-telangiectasia families indicate that obligate ATM heterozygotes display an elevated risk for developing breast cancer.
|
15516988 |
2004 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that heterozygous ATM mutations do not confer genetic predisposition to early onset of breast cancer.
|
9054948 |
1997 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
For the ATM IVS1+19A>T polymorphism, a significant association with breast cancer risk was found in the allele contrast model (C vs. T: OR = 1.60; 95% CI 1.02-2.52).
|
20665102 |
2011 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations affecting the ATM gene thus seem rare in breast cancer.
|
11793440 |
2002 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Eleven mutations were found in other breast cancer susceptibility genes including CHEK2 (n = 5), PALB2 (n = 2), BLM (n = 2), ATM (n = 1) and TP53 (n = 1).
|
27798748 |
2017 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the breast cancer probands, mutations were most commonly observed in CHEK2 (n=9; 2.54%), ATM (n=3; 0.85%), and TP53 (n=3; 0.85%).
|
25622547 |
2015 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Enrichment of pathogenic variants were identified in 4 non-BRCA genes associated with breast cancer risk: ATM (odds ratio [OR], 2.97; 95% CI, 1.67-5.68), CHEK2 (OR, 2.19; 95% CI, 1.40-3.56), PALB2 (OR, 5.53; 95% CI, 2.24-17.65), and MSH6 (OR, 2.59; 95% CI, 1.35-5.44).
|
30128536 |
2019 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
There was no evidence that other classes of ATM variant confer a risk of breast cancer.
|
16832357 |
2006 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The carrier frequency of the ATM C.1066-6T > G mutation was 0.5% (45/8,831) in patients with breast cancer and 0.7% (38/4,957) in healthy controls.
|
20544271 |
2011 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings identified a novel mutation that disrupts ATM function, conferring to breast cancer risk.
|
31160347 |
2019 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss of heterozygosity studies suggest a causative role of the BARD1 mutation in the development of primary peritoneal cancer, but fail to confirm an association between germline ATM mutations and breast cancer development in this family.
|
28139868 |
2017 |