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: rs180177097
rs180177097
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.710 CausalMutation CLINVAR
dbSNP: rs587782462
rs587782462
Entrez Id: 79728;84516
Gene Symbol: PALB2;DCTN5
PALB2;DCTN5
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.710 GeneticVariation CLINVAR
dbSNP: rs1555461294
rs1555461294
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		TG 0.700 CausalMutation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827 2018
dbSNP: rs755263466
rs755263466
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		C 0.700 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827 2018
dbSNP: rs764509489
rs764509489
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		C 0.700 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827 2018
dbSNP: rs118203998
rs118203998
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555 2017
dbSNP: rs1555460533
rs1555460533
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		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
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
dbSNP: rs180177100
rs180177100
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
dbSNP: rs180177100
rs180177100
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer. 28024868 2017
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer. 27783279 2017
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel. 27798748 2017
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer. 27783279 2017
dbSNP: rs180177115
rs180177115
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR A PALB2-interacting domain in RNF168 couples homologous recombination to DNA break-induced chromatin ubiquitylation. 28240985 2017
dbSNP: rs180177122
rs180177122
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 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: rs180177126
rs180177126
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 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: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif. 28158555 2017
dbSNP: rs180177135
rs180177135
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021 2017
dbSNP: rs180177143
rs180177143
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland. 28279176 2017
dbSNP: rs180177143
rs180177143
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
dbSNP: rs515726117
rs515726117
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Lost in translation: returning germline genetic results in genome-scale cancer research. 28454591 2017
dbSNP: rs515726123
rs515726123
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland. 28279176 2017
dbSNP: rs515726123
rs515726123
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif. 28158555 2017
dbSNP: rs515726126
rs515726126
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR A high frequency of PALB2 mutations in Jamaican patients with breast cancer. 28194609 2017
dbSNP: rs515726126
rs515726126
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		TA 0.700 CausalMutation CLINVAR A high frequency of PALB2 mutations in Jamaican patients with breast cancer. 28194609 2017