BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Malignant neoplasm of pancreas ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507851
rs397507851
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346647
Disease:
Malignant neoplasm of pancreas 		C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354 2004
dbSNP: rs80358683
rs80358683
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346647
Disease:
Malignant neoplasm of pancreas 		T 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354 2004
dbSNP: rs80359584
rs80359584
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346647
Disease:
Malignant neoplasm of pancreas 		A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354 2004
dbSNP: rs80358451
rs80358451
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346647
Disease:
Malignant neoplasm of pancreas 		0.700 GeneticVariation UNIPROT
dbSNP: rs11571836
rs11571836
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346647
Disease:
Malignant neoplasm of pancreas 		0.010 GeneticVariation BEFREE Using an approach based on candidate genes whose roles in pancreatic cancer have been well known, we identified two new susceptibility loci. rs11571836 located in the BRCA2 3'-untranslated region was significantly associated with lower expression of BRCA2 transcript and increased pancreatic cancer risk [odds ratio = 1.30, 95% confidence interval = 1.14-1.47, P = 7.64 × 10(-5)] in a recessive manner. rs12939944 located in the MAP2K4 intron was associated with decreased risk (odds ratio = 0.82, 95% confidence interval = 0.74-0.91, P = 0.0001) in a dominant manner. 23299404 2013