Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28904921
rs28904921
0.780 GeneticVariation BEFREE Based on these results, we propose that all female carriers of 40-50 years of age and female ATM c.7271T>G mutation carriers from 25 years of age onwards be offered intensified surveillance programs for breast cancer. 26662178

2016

dbSNP: rs28904921
rs28904921
0.780 GeneticVariation 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

dbSNP: rs28904921
rs28904921
0.780 GeneticVariation BEFREE These findings suggest that although the more common c.1066-6T>G variant is not associated with breast cancer, the rare ATM c.7271T>G variant is associated with a substantially elevated risk. 16958054

2006

dbSNP: rs28904921
rs28904921
0.780 GeneticVariation BEFREE We validated the expression differences by RT-PCR in additional heterozygous V2424G LCLs from another breast cancer family. 17001622

2006

dbSNP: rs28904921
rs28904921
0.780 GeneticVariation BEFREE We conclude that the ATM IVS10-6T-->G mutation does not confer a significantly elevated breast cancer risk and that ATM 7271T-->G is a rare event in familial breast cancer. 14871810

2004

dbSNP: rs28904921
rs28904921
0.780 GeneticVariation BEFREE Recent reports suggest that two ATM gene mutations, 7271T>G and IVS10-6T>G, are associated with a high risk of breast cancer among multiple-case families. 14562025

2003

dbSNP: rs28904921
rs28904921
0.780 GeneticVariation BEFREE Nevertheless, two recurrent ATM mutations, T7271G and IVS10-6T-->G, reportedly increase the risk of breast cancer. 11830610

2002

dbSNP: rs28904921
rs28904921
0.780 GeneticVariation BEFREE 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

dbSNP: rs28904921
rs28904921
G 0.780 CausalMutation CLINVAR

dbSNP: rs587779852
rs587779852
0.710 GeneticVariation BEFREE In the combined analysis, E1978X was significantly associated with breast cancer (Mantel-Haenszel OR: 5.6, 95% CI: 1.3-21.4, P = 0.01). 18807267

2009

dbSNP: rs587779852
rs587779852
T 0.710 CausalMutation CLINVAR

dbSNP: rs1131691164
rs1131691164
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR

dbSNP: rs1185204988
rs1185204988
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs138941496
rs138941496
T 0.700 CausalMutation CLINVAR

dbSNP: rs139770721
rs139770721
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555069815
rs1555069815
ATM
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555070980
rs1555070980
ATM
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555093684
rs1555093684
ATM
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555119041
rs1555119041
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565503137
rs1565503137
T 0.700 CausalMutation CLINVAR

dbSNP: rs17174393
rs17174393
A 0.700 CausalMutation CLINVAR

dbSNP: rs377349459
rs377349459
A 0.700 CausalMutation CLINVAR

dbSNP: rs397514577
rs397514577
A 0.700 CausalMutation CLINVAR

dbSNP: rs532480170
rs532480170
T 0.700 GeneticVariation CLINVAR