Table 2. ATM mutations in the 155... | American Society of Hematology

Table 2.

ATM mutations in the 155 patients in the CLL cohort

Tumor ID	Sequence change	Protein change	Present in diagnostic sample	ATM function	IGVH mutation status and family	TFS, mo	OS, mo	Refractory to Flu/Chl
*Tumors with 2 mutant ATM* alleles**
77^*	1058DelGT	Truncated protein	Yes	Defective	99%, VH1-2	0	83†	Yes
77^*	5224G/C	A1742P	Yes	Defective	99%, VH1-2	0	83†	Yes
96^*	2929Ins9	Inframe insertion	Yes	Defective	96%, VH4-61	33	79	Yes
96^*	5041A/G	I1681V	Yes	Defective	96%, VH4-61	33	79	Yes
96^*	5044G/T	D1682Y	Yes	Defective	96%, VH4-61	33	79	Yes
11^*	5821G/C	V1941L	Not known	Defective	98%, VH3-15	108	156†	Yes
11^*	7313C/A	T2438K	Not known	Defective	98%, VH3-15	108	156†	Yes
11^*	8833Del34	Truncated protein	Not known	Defective	98%, VH3-15	108	156†	Yes
*Tumors with 1 mutant ATM* allele and loss of the second allele**
57^*	2308G/T	Truncated protein	Not known	Partial defect	97%, VH4-59	76	101†	No
15^*	7047C/G	C2349W	Not known	Defective	100%, VH1-69	40	75	Yes
07^*	8600G/A	G2867E	Yes	Defective	99%, VH3-11	0	96	Yes
152^*	8839A/T	T2946S	At 1 year§	Defective	99%, VH1-6	35	79†	No
*Tumors with 1 mutant ATM* allele and 1 wild-type ATM allele**
75	1009C/A	R337S	Yes	Defective	98%, VH3-30	0	39	Yes
69	6815DelA	Truncated protein	Not known	Defective	100%, VH3-15	39	72†	No
119	9022C/T	R3008C	Not known	Defective	97%, VH3-64	36	47†	No
93	5290del C	Truncated protein	Yes	Defective	100%, VH5-51	26†	26†	NT
92	5980A/G	K1994E	Yes	Partial defect	99%, VH1-69	24†	24	NT
124‡	5228C/T	T1743I	Not known	Partial defect	85%, VH3-15	48†	48†	NT
84‡	5821G/C	V1941L	Yes	Partial defect	93%, VH3-7	14	17	Yes
27	3383A/G	Q1127R	Not known	Normal	99%, VH3-21	0	77	Yes
113	3964C/A	L1322F	Not known	Normal	91%, VH3-7	24†	24	NT
147	IVS16-10T/G	Exon skip	Not known	Not done	94%, VH5-51	NA	NA	NA
81	5882A/G	Y1961C	Not known	Not done	93%, VH3-15	36†	36†	NT

Tumor ID	Sequence change	Protein change	Present in diagnostic sample	ATM function	IGVH mutation status and family	TFS, mo	OS, mo	Refractory to Flu/Chl
*Tumors with 2 mutant ATM* alleles**
77^*	1058DelGT	Truncated protein	Yes	Defective	99%, VH1-2	0	83†	Yes
77^*	5224G/C	A1742P	Yes	Defective	99%, VH1-2	0	83†	Yes
96^*	2929Ins9	Inframe insertion	Yes	Defective	96%, VH4-61	33	79	Yes
96^*	5041A/G	I1681V	Yes	Defective	96%, VH4-61	33	79	Yes
96^*	5044G/T	D1682Y	Yes	Defective	96%, VH4-61	33	79	Yes
11^*	5821G/C	V1941L	Not known	Defective	98%, VH3-15	108	156†	Yes
11^*	7313C/A	T2438K	Not known	Defective	98%, VH3-15	108	156†	Yes
11^*	8833Del34	Truncated protein	Not known	Defective	98%, VH3-15	108	156†	Yes
*Tumors with 1 mutant ATM* allele and loss of the second allele**
57^*	2308G/T	Truncated protein	Not known	Partial defect	97%, VH4-59	76	101†	No
15^*	7047C/G	C2349W	Not known	Defective	100%, VH1-69	40	75	Yes
07^*	8600G/A	G2867E	Yes	Defective	99%, VH3-11	0	96	Yes
152^*	8839A/T	T2946S	At 1 year§	Defective	99%, VH1-6	35	79†	No
*Tumors with 1 mutant ATM* allele and 1 wild-type ATM allele**
75	1009C/A	R337S	Yes	Defective	98%, VH3-30	0	39	Yes
69	6815DelA	Truncated protein	Not known	Defective	100%, VH3-15	39	72†	No
119	9022C/T	R3008C	Not known	Defective	97%, VH3-64	36	47†	No
93	5290del C	Truncated protein	Yes	Defective	100%, VH5-51	26†	26†	NT
92	5980A/G	K1994E	Yes	Partial defect	99%, VH1-69	24†	24	NT
124‡	5228C/T	T1743I	Not known	Partial defect	85%, VH3-15	48†	48†	NT
84‡	5821G/C	V1941L	Yes	Partial defect	93%, VH3-7	14	17	Yes
27	3383A/G	Q1127R	Not known	Normal	99%, VH3-21	0	77	Yes
113	3964C/A	L1322F	Not known	Normal	91%, VH3-7	24†	24	NT
147	IVS16-10T/G	Exon skip	Not known	Not done	94%, VH5-51	NA	NA	NA
81	5882A/G	Y1961C	Not known	Not done	93%, VH3-15	36†	36†	NT

Flu indicates fludarabine; Chl, chlorambucil; OS, overall survival; TFS, treatment-free survival; ND, not done; NT, not treated; NA, not available.

Patients with predicted loss of both functional ATM alleles

†

Treatment or death, respectively, has not occurred

‡

Patients with ATM and TP53 mutations

See “ATM mutations are present early in disease ontogenesis and usually at diagnosis”

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