Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11571707
rs11571707
CUI: C1306459
Disease: Primary malignant neoplasm
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