Table 1 Summary of results of PRF1 mutation screening on a cohort of 89 patients
From: Molecular study of the perforin gene in familial hematological malignancies
Patient | Family | Geographic origin | Age at diagnosis | Diagnosis | Sex | Sequence alteration | Amino acid substitution | Family history | Predicted domain |
|---|---|---|---|---|---|---|---|---|---|
1 | F1 | Tunisia | 32 | HL | M | c.632 C > T | p.Ala211Val | FHM without solid tumors | membrane attack complex component/perforin/complement C9 |
2 | F1 | Tunisia | 36 | HL | F | c.632 C > T | p.Ala211Val | FHM without solid tumors | membrane attack complex component/perforin/complement C9 |
3 | F2 | France | 45 | NHL | M | c.755 A > G | p.Asn252Ser | FHM with solid tumors | membrane attack complex component/perforin/complement C9 |
4 | F3 | France | 43 | renal cancer, Ichthyosis | F | c.272 C > T | p.Ala91Val | FHM with solid tumors | ? Low homology |