Table 2 TP53 mutation profile in CLL... | American Society of Hematology

Table 2

TP53 mutation profile in CLL

Patient no.	Time to study, mo	17p-(%) by FISH	Exon	Codon	bp exchange	AA exchange	Mutation type	Transition (Ts)/transversion (Tv)	CpG	Mutation	Mutation	Frequency according to database*	Predicted p53 residual activity, %*
152	59	37	6	193	cat-cgt	His-Arg	PM	Ts		p.His193Arg	c.578A>G	86	10,15
36	0	55	5	179	cat-tat	His - Tyr	PM	Ts		p.His179Tyr	c.535C>T	131	13,27
122	37	65	7	246	atg-gtg	Met-Val	PM	Ts		p.Met246Val	c.736A>G	57	0,00
62	5	75	5	179	cat-tat	His - Tyr	PM	Ts		p.His179Tyr	c.535C>T	131	13,27
17	0	79	8	273	cgt-cat	Arg - His	PM	Ts	Yes	p.Arg273His	c.818G>A	793	1,01
116	0	80	5	141	tgc-tac	Cys-Tyr	PM	Ts		p.Cys141Tyr	c.422G>A	105	9,84
12	12	87	4	98	ccttcc-cc****	Frameshift	DEL	—		p.Pro98fs*	c.294-297delTTCC	NA	0
61	0	87	6	209	aga-**a	Frameshift	DEL	—		p.Arg209fsX5	c.626_627delGA	14	0
31	9	89	5	179	cat-cgt	His - Arg	PM	Ts		p.His179Arg	c.536A>G	150	13,02
9	39	97	5	167	cag-tag	Stopcodon	PM	Ts		p.Gln167X	c.499C>T	42	0
150	75	98	9	317	cag-tag	Stopcodon	PM	Ts		p.Gln317X	c.949C>T	25	0
3	79	—	7	232	atc-ttc	Ile-Phe	PM	Tv		p.Ile232Phe	c.694A>T	11	2,46
22	17	—	6	214	cat-cgt	His-Arg	PM	Ts		p.His214Arg	c.641A>G	69	3,12
35	54	—	4	62	gaa-taa	Stopcodon	PM	Tv		p.Glu62X	c.184G>T	9	0
54	0	—	5	163	tac-tgc	Tyr-Cys	PM	Ts		p.Tyr163Cys	c.488A>G	145	18,30
149	89	—	5	139	aag-aat	Lys-Asp	PM	Tv		p.Lys139Asn	c.417G>T	6	10,40
149	89	—	5	176	tgc-ttc	Cys-Phe	PM	Tv		p.Cys176Phe	c.527G>T	192	22,88
7	122	Yes	5	181	cgc-cac	Arg-His	PM	Ts		p.Arg181His	c.542G>A	35	34,07
26	8	Yes	Intron5	187-1	tag-tac	pot. Splice site	PM	Tv			c.560-1G>C	NA	0

Patient no.	Time to study, mo	17p-(%) by FISH	Exon	Codon	bp exchange	AA exchange	Mutation type	Transition (Ts)/transversion (Tv)	CpG	Mutation	Mutation	Frequency according to database*	Predicted p53 residual activity, %*
152	59	37	6	193	cat-cgt	His-Arg	PM	Ts		p.His193Arg	c.578A>G	86	10,15
36	0	55	5	179	cat-tat	His - Tyr	PM	Ts		p.His179Tyr	c.535C>T	131	13,27
122	37	65	7	246	atg-gtg	Met-Val	PM	Ts		p.Met246Val	c.736A>G	57	0,00
62	5	75	5	179	cat-tat	His - Tyr	PM	Ts		p.His179Tyr	c.535C>T	131	13,27
17	0	79	8	273	cgt-cat	Arg - His	PM	Ts	Yes	p.Arg273His	c.818G>A	793	1,01
116	0	80	5	141	tgc-tac	Cys-Tyr	PM	Ts		p.Cys141Tyr	c.422G>A	105	9,84
12	12	87	4	98	ccttcc-cc****	Frameshift	DEL	—		p.Pro98fs*	c.294-297delTTCC	NA	0
61	0	87	6	209	aga-**a	Frameshift	DEL	—		p.Arg209fsX5	c.626_627delGA	14	0
31	9	89	5	179	cat-cgt	His - Arg	PM	Ts		p.His179Arg	c.536A>G	150	13,02
9	39	97	5	167	cag-tag	Stopcodon	PM	Ts		p.Gln167X	c.499C>T	42	0
150	75	98	9	317	cag-tag	Stopcodon	PM	Ts		p.Gln317X	c.949C>T	25	0
3	79	—	7	232	atc-ttc	Ile-Phe	PM	Tv		p.Ile232Phe	c.694A>T	11	2,46
22	17	—	6	214	cat-cgt	His-Arg	PM	Ts		p.His214Arg	c.641A>G	69	3,12
35	54	—	4	62	gaa-taa	Stopcodon	PM	Tv		p.Glu62X	c.184G>T	9	0
54	0	—	5	163	tac-tgc	Tyr-Cys	PM	Ts		p.Tyr163Cys	c.488A>G	145	18,30
149	89	—	5	139	aag-aat	Lys-Asp	PM	Tv		p.Lys139Asn	c.417G>T	6	10,40
149	89	—	5	176	tgc-ttc	Cys-Phe	PM	Tv		p.Cys176Phe	c.527G>T	192	22,88
7	122	Yes	5	181	cgc-cac	Arg-His	PM	Ts		p.Arg181His	c.542G>A	35	34,07
26	8	Yes	Intron5	187-1	tag-tac	pot. Splice site	PM	Tv			c.560-1G>C	NA	0

PM indicates point mutation; DEL, deletion; CpG, missense mutation at CpG; and —, not applicable.

Frequency and predicted p53 residual activity were retrieved from the 2007_R1 release of the UMD_TP53 Mutation database (http://p53.free.fr).³⁰ The frequency refers to the number of reported mutations in all cancers.

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