PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Breast Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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