Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177132
rs180177132
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
T 0.730 CausalMutation CLINVAR Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry. 25575445

2015

dbSNP: rs180177132
rs180177132
T 0.730 CausalMutation CLINVAR Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. 26283626

2015

dbSNP: rs180177132
rs180177132
T 0.730 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575

2014

dbSNP: rs180177132
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

dbSNP: rs180177132
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

dbSNP: rs180177132
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

dbSNP: rs180177132
rs180177132
T 0.730 CausalMutation CLINVAR Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 21285249

2011

dbSNP: rs180177132
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

dbSNP: rs180177132
rs180177132
T 0.730 GeneticVariation CLINVAR

dbSNP: rs180177111
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

dbSNP: rs180177111
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

dbSNP: rs180177143
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

dbSNP: rs180177111
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

dbSNP: rs180177111
rs180177111
A 0.720 CausalMutation CLINVAR The contribution of founder mutations to early-onset breast cancer in French-Canadian women. 19863560

2009

dbSNP: rs180177111
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

dbSNP: rs180177143
rs180177143
G 0.720 GeneticVariation CLINVAR

dbSNP: rs141047069
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

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

2012

dbSNP: rs180177110
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

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

2010

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

2007

dbSNP: rs180177110
rs180177110
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
A 0.710 CausalMutation CLINVAR

dbSNP: rs587782462
rs587782462
A 0.710 GeneticVariation CLINVAR