Gene: PALB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs515726124
rs515726124
PALB2
0.010 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
dbSNP: rs1488792693
rs1488792693
PALB2
0.010 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
dbSNP: rs8053188
rs8053188
PALB2 ; DCTN5
0.010 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
dbSNP: rs13330119
rs13330119
PALB2
0.010 GeneticVariation BEFREE In addition, we found four low-frequency variants (rs8176085, rs799923, rs8176173 and rs8176258) in the BRCA1 gene, one common variant in the CHEK2 gene (rs9620817), and one common variant in the PALB2 gene (rs13330119) associated with breast cancer risk at P < 0.01. 28419251

2017
dbSNP: rs760094988
rs760094988
PALB2
0.010 GeneticVariation BEFREE Mutational analysis of PALB2 gene revealed the novel mutation c.1919C>A (p.S640X) in a 29 years old woman with breast cancer. 25666743

2015
dbSNP: rs879254154
rs879254154
PALB2
0.010 GeneticVariation BEFREE The proband carrier of c.3047T>C (p.F1016S) showed two breast cancer cases, two ovarian cancer cases and one pancreatic cancer in mother's family. c.3047T>C (p.F1016S) and c.*146A>G should be considered PALB2 UVs even though the genotype-phenotype correlation for these variants remains still unclear. 25666743

2015
dbSNP: rs57605939
rs57605939
PALB2
0.010 GeneticVariation BEFREE We investigated and found no significant association between the P210L variant and breast cancer risk in a small case-control study of African-American women. 21113654

2011
dbSNP: rs16940342
rs16940342
PALB2
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
dbSNP: rs249935
rs249935
PALB2
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
dbSNP: rs447529
rs447529
PALB2
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
dbSNP: rs249935
rs249935
PALB2
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
dbSNP: rs249954
rs249954
PALB2
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
dbSNP: rs778345761
rs778345761
PALB2
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
dbSNP: rs447529
rs447529
PALB2
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
dbSNP: rs778345761
rs778345761
PALB2
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
dbSNP: rs16940342
rs16940342
PALB2
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
dbSNP: rs249954
rs249954
PALB2
0.020 GeneticVariation BEFREE Based on an additive model, tSNPs rs249954 and rs120963 were associated with an increase of breast cancer risk (P = 0.005 and 0.019; respectively), with the false discovery rate-adjusted P values being 0.020 and 0.038, respectively. 18794107

2008
dbSNP: rs1555461294
rs1555461294
PALB2
TG 0.700 CausalMutation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs755263466
rs755263466
PALB2
C 0.700 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs764509489
rs764509489
PALB2
C 0.700 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs1555460533
rs1555460533
PALB2
A 0.700 CausalMutation CLINVAR Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene. 27648926

2017
dbSNP: rs180177099
rs180177099
PALB2
T 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs515726126
rs515726126
PALB2
TA 0.700 CausalMutation CLINVAR A high frequency of PALB2 mutations in Jamaican patients with breast cancer. 28194609

2017
dbSNP: rs587776407
rs587776407
PALB2
A 0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017
dbSNP: rs587782005
rs587782005
PALB2
A 0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017