Table III.

Outcomes according to genotype.

Feature	FA				DC					DBA		SDS
Genotype	FANCA	FANCC	BRCA2 (FANCD1)	Other/Unk	DKC1	TERC	TERT	TINF2	Unk	RPS19	Unk	SBDS	Unk
N (%)*	31 (57%)	14 (26%)	2 (4%)	19	9 (18%)	8 (16%)	4 (8%)	15 (30%)	14	17 (27%)	49	16 (94%)	1
Male:Female	12:19	3:11	1:1	6:13	9:0	2:6	3:1	12:3	11:3	10:7	27:19	7:9	1:0
Person-Years	822	254	9	300	167	343	125	372	188	409	1039	258	15
Death	10	6	2	7	3	3	1	4	7	0	5	0	0
N, BMT	10	5	0	3	2	0	0	4	4	1	1	0	0
N, BMF	14	6	0	5	3	1	1	5	7	1	3	16	0
N, AML	0	2	0	2	1	1	0	0	0	0	0	0	0
N, ST	7	1	2	1	0	2	0	1	2	0	3	0	0
N, None	10	5	0	11	5	4	3	9	5	16	40	0	1

Abbreviations defined in legend to Table I.

DNA was available for 59 of the 66 patients with FA; 57% were FANCA and 26% were FANCC (4 IVS4 + 4A>T, 5 had one exon 14 allele, and 8 had at least one 322delG allele). Thirty-six of the 50 patients with DC had mutations in known genes: DKC1 18%,, TERC 16%, TERT 8%, and TINF2 30%; the latter includes eight members of the family in which TINF2 was first identified (Savage et al, 2008).

Unk, unknown, either because known genes were not mutated, or no material was available (usually the patient had died).

FA Other: 1 FANCF, 1 FANCG, 2 BRIP1 (FANCJ), 2 with 2 bands of FANCD2 protein, 1 no mutations in known genes, 7 dead with no material, and 5 in progress. DC Other: 14 without mutations in the known genes. DBA Other: 3 RPS24, 1 RPL11, and 45 unknown. SDS Other: 1 with wild type SBDS.

^*% of the 54 with FA where mutations have been sought, and all those with DC, DBA, and SDS.

Death = vital status, not a first event. BMT is for any reason. BMF, AML, and ST are first events. BMF is severe, defined as bone marrow transplantation for, or death from, aplastic anaemia.