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
|
|
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 |
Breast-cancer risk in families with mutations in PALB2.
|
25099575 |
2014 |
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
|
|
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 |
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
|
21409391 |
2011 |
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
|
|
T |
0.730 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.
|
23341105 |
2013 |
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 |
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 |
The contribution of founder mutations to early-onset breast cancer in French-Canadian women.
|
19863560 |
2009 |
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 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
rs141047069
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Rare germline mutations in PALB2 and breast cancer risk: a population-based study.
|
22241545 |
2012 |
rs180177110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.
|
21618343 |
2011 |
rs515726123
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.
|
20122277 |
2010 |
rs141047069
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
A recurrent mutation in PALB2 in Finnish cancer families.
|
17287723 |
2007 |
rs180177110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
|
17200671 |
2007 |
rs180177097
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs587782462
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|