PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs420259
rs420259
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0005586
Disease:
Bipolar Disorder
0.810 GeneticVariation GWASDB Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. 21254220 2011
dbSNP: rs420259
rs420259
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0005586
Disease:
Bipolar Disorder
0.810 GeneticVariation GWASCAT Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. 21254220 2011
dbSNP: rs420259
rs420259
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0005586
Disease:
Bipolar Disorder
0.810 GeneticVariation BEFREE We then combined our sample with another Nordic case-control sample (n = 435/11,491) from Iceland, and added results from the Wellcome Trust Case Control Consortium (WTCCC) (n = 1,868/2,938) and the STEP-UCL/ED-DUB-STEP2 study (n = 2,558/3,274) in a meta-analysis which revealed a P-value of 1.2 × 10(-5) for association between PALB2 SNP rs420259 and BD (n = 5,547/20,241). 20872766 2010
dbSNP: rs420259
rs420259
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0005586
Disease:
Bipolar Disorder
A 0.810 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300 2007
dbSNP: rs420259
rs420259
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0005586
Disease:
Bipolar Disorder
A 0.810 GeneticVariation GWASDB Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300 2007
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.730 CausalMutation CLINVAR Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. 26283626 2015
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.730 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.730 CausalMutation CLINVAR Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry. 25575445 2015
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.730 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma
T 0.730 CausalMutation CLINVAR Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 21285249 2011
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.730 CausalMutation CLINVAR Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 21285249 2011
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.730 CausalMutation CLINVAR BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. 21409391 2011
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.730 GeneticVariation CLINVAR
dbSNP: rs180177143
rs180177143
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast
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