From: BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families
Nucleotide change
Effect on protein
Case (n=1075)
Diagnosis/age
c.646delG
A216 (229stop)
3
BC/39,44,58
c.658delGT
V220 (223stop)
4
BC/43,51,55,73
c.5244delC
S1748 (1748stop)
0
c.7316delG
G2439 (2468stop)