BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs431825412
rs431825412
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Four PIK3CA mutations (p.G106A, p.N345T, p.E545K, and p.E545D) were detected in 3 tumors, 2 of which also harbored TP53 mutations. 29505425 2018