. 2011 Dec 29;11(2):225–233. doi: 10.1007/s10689-011-9505-3

Table 1.

Number and type of second primary tumor (SPT) by mutation type

Type of RB1 mutation^a	Number of carriers n (%)^a	Number of cases with SPT n (%)^b	Type of SPT
Type of RB1 mutation^a	Number of carriers n (%)^a	Number of cases with SPT n (%)^b	Sarcoma^c	Melanoma	Epithelial cancer	Other^d
Nonsense/frameshift mutation	117 (58.8)	31 (26.5)	11	8	10	2
Recurrent nonsense mutation	49 (41.9)	17 (34.7)	7	7	2	1
Low penetrance mutation = exon 1	7 (6)	1 (14.3)
Splice mutation	34 (17.1)	7 (20.6)	2	1	4	0
Low penetrance mutation	11 (32.4)	0
Large rearrangements	35 (17.6)	6 (17.1)	2	2	2	0
Low penetrance mutation	21 (60)	1 (4.8)	1
Missense mutation	11 (5.5)	0	0	0	0	0
Low penetrance mutation	11 (100)	0
Promoter mutation	2 (1)	0	0	0	0	0
Low penetrance mutation	2 (100)	0
Total	199	44 (22.1)	15	11	16	2

^a Subclassification of the mutation type is shown in italics, percentage as compared to total number of cases with this mutation type

^b Percentage of cases with an SPT as compared to total number of cases with this mutation type

^c Including soft tissue sarcoma, osteosarcoma, and chondrosarcoma

^d Malignant tumor not otherwise specified and brain tumor