p.Q775X positive cases | Features of p.Q775X positive case [Family number] | Number of index cases screened | Context and feature of cases or families tested | BRCA1and BRCA2status | Reference |
---|---|---|---|---|---|
0 | Â | 22 | HBC and HBOC families; BRCAPRO scores > 0.10 | Mutation-negative families | [10] |
0 | Â | 16 | HBC and HBOC families; BRCAPRO scores < 0.10 | Mutation-negative families | [10] |
1 | BC 54 [P280311 and (F15732)] | 50 | BC < 50 years of age, or BC between 50–65 yrs of age with at least one other BC or OC in first or second degree relative | Mutation-negative families | |
2 | BC 36 [P260071] BC 49 [P310301] | 3562 | BC <50 years | Common French Canadian mutation negative | [5] |
4 | BC 36 [P260071] BC 46 [P280311] BC 49 [P310301] BC 49 [P36470] | 5642 | BC <50 years | Common French Canadian mutation negative | [29] |
0 | Â | 99 | High risk BC families | Mutation negative | [31] |
0 | Â | 21 | HBC and HBOC families with at least 2 first/second degree relatives with BC | Mutation negative | [2] |
1 | BiBC 39–42 [F1469] | 48 | HBC families (see Table 1) | Mutation-negative or common French Canadian mutation negative | This study |
0 | Â | 23 | HBOC families (see Table 1) | Mutation-negative or common French Canadian mutation negative | This study |
1 | BC52;OC58 | 491 | OC (see Table 2) | Not known | This study |