Table 3.
Characteristics of the United Kingdom Familial Ovarian Cancer Screening Study Mutation Carriers
| Gene | Mutation Information |
Proband Characteristic |
Family History |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|
| No. of Affected First-Degree Relatives |
No. of Affected First- and Second-Degree Relatives |
|||||||||
| cDNA Change | Location | Protein Change | Predicted Effect | Ref. Age, Years | Breast Cancer (age in years) | Ovarian Cancer | Breast Cancer | Ovarian Cancer | Breast Cancer | |
| RAD51B | 854-2A>G | Intron 8 | NA | Splicing | 58 | No | 0 | 0 | 2 | 0 |
| RAD51C | C97T | Exon 1 | Q33X | Nonsense | 31 | No | 1 | 1 | 2 | 1 |
| RAD51C | 158delC | Exon 2 | S53fs | Frameshift deletion | 69 | No | 2 | 0 | 2 | 0 |
| RAD51C | C577T | Exon 4 | R193X | Nonsense | 46 | No | 0 | 0 | 0 | 1 |
| RAD51C | C577T | Exon 4 | R193X | Nonsense | 46 | No | 1 | 0 | 2 | 0 |
| RAD51C | C577T | Exon 4 | R193X | Nonsense | 41 | No | 1 | 0 | 2 | 0 |
| RAD51C | 731delT | Exon 5 | I244fs | Frameshift deletion | 51 | No | 1 | 0 | 3 | 0 |
| RAD51C | 731delT | Exon 5 | I244fs | Frameshift deletion | 64 | Yes (57) | 2 | 0 | 3 | 1 |
| RAD51D | 263 + 1G>A | Intron 3 | NA | Splicing | 53 | No | 1 | 0 | 4 | 0 |
| RAD51D | C556T | Exon 6 | R186X | Nonsense | 62 | No | 1 | 0 | 3 | 2 |
| RAD51D | C556T | Exon 6 | R186X | Nonsense | 62 | Yes (52) | 1 | 0 | 1 | 1 |
| RAD51D | C556T | Exon 6 | R186X | Nonsense | 25 | No | 1 | 0 | 1 | 0 |
| RAD51D | 748delC | Exon 9 | H250fs | Frameshift deletion | 50 | No | 1 | 0 | 1 | 1 |
Abbreviation: Ref., reference.