BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Primary malignant neoplasm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11571707
rs11571707
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history.The tumor was not available for study. 19851859 2010