|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs28904921
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Nevertheless, two recurrent ATM mutations, T7271G and IVS10-6T-->G, reportedly increase the risk of breast cancer.
|
11830610 |
2002 |
|
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 |
|
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 |
|
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 |
|
rs1555093684
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs532480170
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs56399857
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs587776547
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs587782652
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs730881346
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs777741666
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs786202743
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs786202826
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs786203059
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs869312754
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs869312755
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1).
|
30194396 |
2018 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype confered a 3.19 fold increase in brea</span>st cancer risk (OR = 3.19 [95%CI 1.16-8.89], p = 0.021).
|
18433505 |
2008 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Four SNPs [rs3218550 (XRCC2), rs6917 (PHB), rs1801516 (ATM), and rs13689 (CDH1)] were significantly associated with risk of breast cancer.
|
29433565 |
2018 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results do not support association of the 5557G>A or ivs38-8T>C variant with increased breast cancer risk or with bilateral breast cancer.
|
16914028 |
2006 |