Table 1

Summary of results of PRF1 mutation screening on a cohort of 89 patients

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

FHM familial hematological malignancies, HL Hodgkin lymphoma, NHL Non Hodgkin Lymphoma

El Abed et al. Hereditary Cancer in Clinical Practice 2011 9:9   doi:10.1186/1897-4287-9-9