|
rs180177132
|
|
|
0.730 |
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 |
|
rs180177132
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
About 1.5% (95% CI 0.6to 2.4) of Australasian multiple-case breast cancer families attending clinics are segregating protein-truncating mutations in PALB2, most being PALB2 c.3113G>A, p.Trp1038*.
|
23448497 |
2013 |
|
rs180177132
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Available data suggests that PALB2 c.3113G>A is a rare mutation with estimated breast cancer risks similar in magnitude to that associated with BRCA2 mutations.
|
23471749 |
2013 |
|
rs180177132
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
|
21285249 |
2011 |
|
rs180177132
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.
|
21182766 |
2010 |
|
rs180177132
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.
|
21182766 |
2010 |
|
rs515726123
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Targeted-sequencing identified two frameshift deletions: PALB2:c.509_510del; p.R170Ifs in three women affected with breast cancer and PALB2:c.172_175del;p.Q60Rfs in one woman affected with ovarian cancer.
|
29052111 |
2018 |
|
rs515726123
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
|
21285249 |
2011 |
|
rs515726123
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
PALB2 mutations in European familial pancreatic cancer families.
|
20412113 |
2010 |
|
rs515726123
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.
|
20122277 |
2010 |
|
rs180177133
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs769240800
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs180177143
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Based on highly similar founder variant spectra of the <i>BRCA1</i> in Poland and Latvia, we decided to test the frequency of other common variants of moderate breast cancer risk - c.509_510delGA (rs515726124) and c.172_175delTTGT (rs180177143) of the <i>PALB2</i> gene and c.1667_1667+3delAGTA variant of the <i>RECQL</i> gene in a breast cancer case-control series from Latvia to better understand the role of genes in susceptibility to breast cancer and their clinical significance.
|
31312277 |
2019 |
|
rs16940342
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results of this study suggest that SNPs in the PALB2 loci rs120963/rs249935/rs447529, but not in the other 3 loci (rs152451/rs8053188/rs16940342), may contribute to breast cancer susceptibility.
|
30458447 |
2018 |
|
rs180177143
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Targeted-sequencing identified two frameshift deletions: PALB2:c.509_510del; p.R170Ifs in three women affected with breast cancer and PALB2:c.172_175del;p.Q60Rfs in one woman affected with ovarian cancer.
|
29052111 |
2018 |
|
rs249935
|
|
|
0.020 |
GeneticVariation |
BEFREE |
SNPs in the PALB2 gene loci rs120963, rs249935, and rs447529 were significantly associated with an increased or decreased risk of breast cancer.
|
30458447 |
2018 |
|
rs447529
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results of this study suggest that SNPs in the PALB2 loci rs120963/rs249935/rs447529, but not in the other 3 loci (rs152451/rs8053188/rs16940342), may contribute to breast cancer susceptibility.
|
30458447 |
2018 |
|
rs249935
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This case-control study provided evidence that rs120963 and rs249954 of the PALB2 gene are associated with increased breast cancer risk, and that the association of rs249935 with breast cancer risk may be modified by the tumor pathological characteristics.
|
26981788 |
2016 |
|
rs249954
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This case-control study provided evidence that rs120963 and rs249954 of the PALB2 gene are associated with increased breast cancer risk, and that the association of rs249935 with breast cancer risk may be modified by the tumor pathological characteristics.
|
26981788 |
2016 |
|
rs180177111
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We also identified a PALB2 p.</span>Q775X carrier who had papillary serous ovarian cystadenocarcinoma at age 58 among the 238 serous subtype ovarian cancer cases investigated, who also had breast cancer at age 52.
|
23302520 |
2013 |
|
rs778345761
|
|
|
0.020 |
GeneticVariation |
BEFREE |
PALB2 c.3113G>A (p.Trp1038*) is a protein-truncating mutation which has been associated with high estimated risk of breast cancer in Australian women (91%; 95% CI = 44-100) to age 70 years.
|
23471749 |
2013 |
|
rs180177111
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One c.9004G>A carrier also harbored the PALB2 c.2323C>T (Q775X) mutation found to recur in French Canadian breast cancer cases.
|
21947752 |
2012 |
|
rs447529
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Based on the dominant inheritance model tests, we found that compared with rs447529 CC homozygotes, the variant homozygote GG and heterozygote GC carriers had a 0.43-fold decreased risk of breast cancer (95% confidence interval = 0.24-0.78, P = 0.005).
|
19921424 |
2010 |
|
rs778345761
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.
|
21182766 |
2010 |
|
rs16940342
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Based on the multiple hypothesis testing with the Benjamini-Hochberg method, tagging SNPs (tSNP) rs249954, rs120963, and rs16940342 were found to be associated with an increase of breast cancer risk (false discovery rate-adjusted P values of 0.004, 0.028, and 0.049, respectively) under the dominant model. tSNP rs249954 was associated with a 36% increase of breast cancer risk [adjusted odds ratio (OR), 1.36; 95% confidence intervals (CI), 1.13-1.64; P = 0.001; TT/TC versus CC genotypes].
|
18794107 |
2008 |