Gene: PALB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177132
rs180177132
PALB2
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
PALB2
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
PALB2
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
PALB2
T 0.730 GeneticVariation CLINVAR

dbSNP: rs180177111
rs180177111
PALB2
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
dbSNP: rs180177111
rs180177111
PALB2
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
dbSNP: rs180177143
rs180177143
PALB2
G 0.720 GeneticVariation CLINVAR

dbSNP: rs180177143
rs180177143
PALB2
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
dbSNP: rs180177143
rs180177143
PALB2
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
dbSNP: rs141047069
rs141047069
PALB2
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
dbSNP: rs141047069
rs141047069
PALB2
0.710 GeneticVariation UNIPROT Rare germline mutations in PALB2 and breast cancer risk: a population-based study. 22241545

2012
dbSNP: rs141047069
rs141047069
PALB2
0.710 GeneticVariation BEFREE 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
dbSNP: rs141047069
rs141047069
PALB2
0.710 GeneticVariation UNIPROT A recurrent mutation in PALB2 in Finnish cancer families. 17287723

2007
dbSNP: rs180177097
rs180177097
PALB2
0.710 GeneticVariation BEFREE Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2. 27624329

2016
dbSNP: rs180177110
rs180177110
PALB2
0.710 GeneticVariation BEFREE PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk. 31089269

2019
dbSNP: rs515726123
rs515726123
PALB2
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
dbSNP: rs587782462
rs587782462
PALB2 ; DCTN5
0.710 GeneticVariation BEFREE A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers. 30255452

2019
dbSNP: rs587782462
rs587782462
PALB2 ; DCTN5
A 0.710 GeneticVariation CLINVAR

dbSNP: rs1057517539
rs1057517539
PALB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517563
rs1057517563
PALB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517585
rs1057517585
PALB2 ; DCTN5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517600
rs1057517600
PALB2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517602
rs1057517602
PALB2
C 0.700 GeneticVariation CLINVAR Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic. 27106063

2016
dbSNP: rs1060499814
rs1060499814
PALB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499827
rs1060499827
PALB2
G 0.700 GeneticVariation CLINVAR