From: Germline mutation in the RAD51B gene confers predisposition to breast cancer
Gene | Genetic variation | Variant class | Effect on splicing | Predicted effect on protein (Align-GVGD class†) | Personal cancer history (age at diagnosis) | Family cancer history (age at diagnosis) | Controls‡ |
---|---|---|---|---|---|---|---|
RAD51B | c.452 + 3A > G | Splicing mutation | Exon 5 skipping by in silico prediction* | Unstable or truncated protein, confirmed by negative IHC | BC (34) | Paternal aunt, BC (58); 3rd degree relative, OC (29) | - |
RAD51B | c.475C > T, p. Arg159Cys | Likely deleterious missense variant | No predicted effect | ATP-binding domain, highly conserved amino acid, Grantham 180 (Class C65) | BC (54) | Sister, BC (45); Sister’s daughter BC (45) | 2/4299 |
RAD51C | c.706-2A > G | Splicing mutation | Exon 5 skipping confirmed by mRNA analysis | 44 amino acids loss in ATP-binding domain | BC (39) | Paternal aunt§, OC (67) | - |
RAD51C | c.1026 + 5_1026 + 7del | Splicing mutation | Exon 8 skipping confirmed by mRNA analysis | Unstable or truncated protein | BC (38), OC (51) | Father, PC (69); Paternal grandmother, UC (66); Paternal grandfather, SC (69) | - |
XRCC3 | c.448C > T, p. Arg150Cys | Likely deleterious missense variant | No predicted effect | ATP-binding domain, highly conserved amino acid, Grantham 180 (Class C65) | BC (63) | Mother, OC (61); Maternal aunt, BC (55); Maternal aunt, BC (73); Maternal aunt, BC (76); Maternal aunt, BC (63, 79) | 1/4276 |