Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 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

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker CTD_human By analyzing ∼1,000 breast cancer samples, we confirmed this association and established that germline nonsense and frameshift variants in PALB2, but not in ATM or CHEK2, can also give rise to the same signature. 28825726

2017

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Conversely, there is no evidence from this study that rare PALB2 missense mutations strongly influence breast cancer risk. 22241545

2012

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker GENOMICS_ENGLAND Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671

2007

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT These results indicate that PALB2 is a breast cancer susceptibility gene that, in a suitably mutant form, may also contribute to familial prostate cancer development. 17287723

2007

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker GENOMICS_ENGLAND Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. 17200672

2007

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 CausalMutation CGI