Phenotype–genotype correlation in recurrent mutation combinations
| Genotype | n | Age* | FU years (25 and older) | Affected/non-affected | BC† | OC† | Cancers per carrier | Cancers per FU-year >25 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| *Mean (range). | ||||||||||||||
| †n(mean age at diagnosis; range). | ||||||||||||||
| BC, breast cancer; FU, follow up; OC, ovarian cancer. | ||||||||||||||
| 5382insC/6174delT | 6 | 52 (40 to 61) | 151 | 5/1 | 8 (40; 33 to 51) | 0 | 1.33 | 0.053 | ||||||
| 185delAG/6174delT | 13 | 48 (36 to 66) | 253 | 9/4 | 8 (43; 34 to 55) | 4 (48; 36 to 57) | 0.92 | 0.047 | ||||||
| 5242C→T/6503delTT | 7 | 52 (28 to 70) | 177 | 3/4 | 3 (55; 28 to 70) | 0 | 0.43 | 0.017 | ||||||