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: rs180177143
rs180177143
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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: rs180177143
rs180177143
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.720 CausalMutation CLINVAR The contribution of founder mutations to early-onset breast cancer in French-Canadian women. 19863560 2009
dbSNP: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		G 0.720 GeneticVariation CLINVAR
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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: rs587782462
rs587782462
Entrez Id: 79728;84516
Gene Symbol: PALB2;DCTN5
PALB2;DCTN5
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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: rs515726123
rs515726123
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.710 GeneticVariation UNIPROT Rare germline mutations in PALB2 and breast cancer risk: a population-based study. 22241545 2012
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.710 CausalMutation CLINVAR Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 21285249 2011
dbSNP: rs515726123
rs515726123
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.710 CausalMutation CLINVAR A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. 20122277 2010
dbSNP: rs515726123
rs515726123
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.710 CausalMutation CLINVAR PALB2 mutations in European familial pancreatic cancer families. 20412113 2010
dbSNP: rs515726123
rs515726123
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.710 CausalMutation CLINVAR A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. 20122277 2010
dbSNP: rs141047069
rs141047069
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.710 GeneticVariation UNIPROT A recurrent mutation in PALB2 in Finnish cancer families. 17287723 2007
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.710 CausalMutation CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007