Gene: PALB2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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 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: 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: rs141047069
rs141047069
PALB2
0.710 GeneticVariation UNIPROT Rare germline mutations in PALB2 and breast cancer risk: a population-based study. 22241545

2012
dbSNP: rs180177110
rs180177110
PALB2
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
dbSNP: rs515726123
rs515726123
PALB2
A 0.710 CausalMutation CLINVAR A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. 20122277

2010
dbSNP: rs141047069
rs141047069
PALB2
0.710 GeneticVariation UNIPROT A recurrent mutation in PALB2 in Finnish cancer families. 17287723

2007
dbSNP: rs180177110
rs180177110
PALB2
A 0.710 CausalMutation CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671

2007
dbSNP: rs180177097
rs180177097
PALB2
A 0.710 CausalMutation CLINVAR

dbSNP: rs587782462
rs587782462
PALB2 ; DCTN5
A 0.710 GeneticVariation CLINVAR

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
dbSNP: rs587782081
rs587782081
PALB2
T 0.700 CausalMutation CLINVAR Frequency of germline PALB2 mutations among women with epithelial ovarian cancer. 27631815

2017
dbSNP: rs786203057
rs786203057
PALB2
A 0.700 CausalMutation CLINVAR Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 28678401

2017
dbSNP: rs875989791
rs875989791
PALB2
C 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
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: rs118203998
rs118203998
PALB2
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016