rs180177132
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
|
26283626 |
2015 |
rs180177132
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
rs180177132
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
|
25575445 |
2015 |
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 |
rs180177132
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.
|
24415441 |
2014 |
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 |
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
|
21285249 |
2011 |
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 |
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 |
Breast-cancer risk in families with mutations in PALB2.
|
25099575 |
2014 |
rs180177132
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
|
21409391 |
2011 |
rs180177132
|
|
T |
0.730 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
rs180177111
|
|
|
0.720 |
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 |
rs180177111
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
The contribution of founder mutations to early-onset breast cancer in French-Canadian women.
|
19863560 |
2009 |
rs180177111
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
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 |
rs180177111
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.
|
23341105 |
2013 |
rs180177111
|
|
|
0.720 |
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 |
rs180177111
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
We also identified a PALB2 p.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 |
rs180177111
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.
|
18053174 |
2007 |
rs180177143
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.
|
24136930 |
2013 |
rs180177143
|
|
G |
0.720 |
GeneticVariation |
CLINVAR |
|
|
|
rs180177143
|
|
|
0.720 |
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 |
rs180177143
|
|
|
0.720 |
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 |
rs141047069
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.
|
28319063 |
2017 |