Table 2. ATM nucleotide changes detected... | American Society of Hematology

Table 2.

ATM nucleotide changes detected in familial CLL cases

Family	CLL case	Age at diagnosis, y	ATM nucleotide changes
Family	CLL case	Age at diagnosis, y	Truncating or amino acid substitution	Other
5	Father	nk	ne	ne
	Uncle	nk	ne	ne
	Sister	54	5042T>C (Ile1681Thr)	IVS25-13insA^†; 4578C>T^‡; IVS63+60G/A^‡
	Brother	46	nd	IVS4-36insTG; IVS25-13insA^†; 4578C>T; IVS63+60G/A^‡
	Brother	47	5042T>C (Ile1681Thr)	IVS25-13insA^†,^2-153
6	Mother	69	nd	IVS25-13insA^†; IVS40+27G/A; IVS63+60G/A^‡
	Daughter	42	5557G>A (Asp1853Asn)^‡	IVS4-36insTG^2-153; IVS24-10delT; IVS25-13insA^†; IVS63+60G/A^‡
	Son	40	5557G>A (Asp1853Asn)^‡	IVS4-36insTG^2-153; IVS24-10delT; IVS25-13insA^†; IVS63+60G/A^‡
8	Brother	70	6919C>T (Leu2307Phe)	IVS63+60G/A^‡,^2-153; IVS25-13insA^†
	Brother	76	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Brother	nk	ne	ne
11	Sister	69	nd	nd
	Sister	61	nd	nd
13	Sister	70	2572T>C (Phe858Leu)^‡	IVS25-13insA^†; IVS63+60G/A^‡
	Brother	58	nd	162T>C^2-153; IVS25-13insA^†; IVS63+60G/A^‡
15	Brother	63	8266A>T (Lys2756Xaa)^‡	IVS25-13insA^†; 4578C>T; IVS63+60G/A^‡
	Sister	61	nd	IVS25-13insA^†,^2-153
18	Sister	74	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Sister	73	nd	IVS25-13insA^†; IVS63+60G/A^‡
20	Brother	64	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Brother	66	nd	IVS63+60G/A^2-153,^‡
39	Sister	60	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS25-13insA^†; IVS63+60G/A^‡
	Sister	51	4258C>T (Leu1420Phe)^‡	IVS4-36insTG^2-153; IVS63+60G/A^‡,^2-153
	Sister	nk	ne	ne
40	Brother	71	nd	IVS25-13insA^†,^2-153
	Sister	48	nd	IVS25-13insA^†; IVS63+60G/A^‡
41	Brother	35	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Sister	51	nd	IVS25-13insA^†,^2-153
42	Uncle	59	nd	IVS25-13insA^†,^2-153
	Second cousin	43	nd	IVS25-13insA^†; IVS63+60G/A^‡
43	Sister	72	nd	nd
	Sister	67	5756delAA; 7271insGT	nd
45	Brother	61	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Sister	52	nd	IVS25-13insA^†,^2-153
46	Sister	61	nd	IVS62+8A/C
	Sister	59	nd	IVS62+8A/C
48	Sister	45	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Sister	51	nd	IVS25-13insA^†; IVS63+60G/A^‡
49	Brother	69	nd	IVS25-13insA^†,^2-153
	Sister	80	nd	IVS25-13insA^†; IVS63+60G/A^‡
60	Brother	55	nd	nd
	Sister	49	nd	nd
63	Brother	57	378T>A (Asp126Glu)	IVS25-13insA^†
	Sister	43	nd	IVS25-13insA^†; IVS63+60G/A^‡
64	Brother	62	5557G>A (Asp1853Asn)^‡	IVS15-48T/C; IVS24-10delT
	Brother	64	5557G>A (Asp1853Asn)^‡,^2-153	IVS16+78G/A
78	Uncle	54	nd	IVS25-13insA^†,^2-153
	Uncle	50	ne	ne
	Nephew	32	nd	IVS4-36insTG^2-153; 4578C>T; IVS63+60G/A^‡,^2-153
85	Brother	60	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Brother	49	2572T>C (Phe858Leu)	nd
96	Brother	65	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS25-13insA^†,^2-153
	Brother	61	nd	IVS4-36insTG^2-153; IVS63+60G/A^‡,^2-153
98	Brother	67	378T>A(Asp126Glu);	IVS16+78G/A; IVS24-10delT; IVS25-13insA^†
			2572T>C (Phe858Leu)
			5557G>A (Asp1853Asn)^‡
	Brother	64	5557G>A (Asp1853Asn)^‡	IVS4-36insTG; IVS16+78G/A; IVS24-10delT; IVS25-13insA^†
115	Brother	53	2572T>C (Phe858Leu);	IVS24-10delT
			5557G>A (Asp1853Asn)^‡
	Brother	51	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS63+60G/A^‡,^2-153
117	Sister	65	nd	nd
	Sister	64	nd	nd
118	Father	79	nd	nd
	Daughter	46	nd	IVS63+60G/A^‡
138	Sister	64	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS25-13insA^†,^2-153
	Brother	74	nd	IVS25-13insA^†
162	Brother	54	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS25-13insA^†; IVS63+60G/A^‡
	Brother	61	5557G>A (Asp1853Asn)^‡,^2-153	IVS25-13insA^†,^2-153

Family	CLL case	Age at diagnosis, y	ATM nucleotide changes
Family	CLL case	Age at diagnosis, y	Truncating or amino acid substitution	Other
5	Father	nk	ne	ne
	Uncle	nk	ne	ne
	Sister	54	5042T>C (Ile1681Thr)	IVS25-13insA^†; 4578C>T^‡; IVS63+60G/A^‡
	Brother	46	nd	IVS4-36insTG; IVS25-13insA^†; 4578C>T; IVS63+60G/A^‡
	Brother	47	5042T>C (Ile1681Thr)	IVS25-13insA^†,^2-153
6	Mother	69	nd	IVS25-13insA^†; IVS40+27G/A; IVS63+60G/A^‡
	Daughter	42	5557G>A (Asp1853Asn)^‡	IVS4-36insTG^2-153; IVS24-10delT; IVS25-13insA^†; IVS63+60G/A^‡
	Son	40	5557G>A (Asp1853Asn)^‡	IVS4-36insTG^2-153; IVS24-10delT; IVS25-13insA^†; IVS63+60G/A^‡
8	Brother	70	6919C>T (Leu2307Phe)	IVS63+60G/A^‡,^2-153; IVS25-13insA^†
	Brother	76	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Brother	nk	ne	ne
11	Sister	69	nd	nd
	Sister	61	nd	nd
13	Sister	70	2572T>C (Phe858Leu)^‡	IVS25-13insA^†; IVS63+60G/A^‡
	Brother	58	nd	162T>C^2-153; IVS25-13insA^†; IVS63+60G/A^‡
15	Brother	63	8266A>T (Lys2756Xaa)^‡	IVS25-13insA^†; 4578C>T; IVS63+60G/A^‡
	Sister	61	nd	IVS25-13insA^†,^2-153
18	Sister	74	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Sister	73	nd	IVS25-13insA^†; IVS63+60G/A^‡
20	Brother	64	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Brother	66	nd	IVS63+60G/A^2-153,^‡
39	Sister	60	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS25-13insA^†; IVS63+60G/A^‡
	Sister	51	4258C>T (Leu1420Phe)^‡	IVS4-36insTG^2-153; IVS63+60G/A^‡,^2-153
	Sister	nk	ne	ne
40	Brother	71	nd	IVS25-13insA^†,^2-153
	Sister	48	nd	IVS25-13insA^†; IVS63+60G/A^‡
41	Brother	35	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Sister	51	nd	IVS25-13insA^†,^2-153
42	Uncle	59	nd	IVS25-13insA^†,^2-153
	Second cousin	43	nd	IVS25-13insA^†; IVS63+60G/A^‡
43	Sister	72	nd	nd
	Sister	67	5756delAA; 7271insGT	nd
45	Brother	61	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Sister	52	nd	IVS25-13insA^†,^2-153
46	Sister	61	nd	IVS62+8A/C
	Sister	59	nd	IVS62+8A/C
48	Sister	45	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Sister	51	nd	IVS25-13insA^†; IVS63+60G/A^‡
49	Brother	69	nd	IVS25-13insA^†,^2-153
	Sister	80	nd	IVS25-13insA^†; IVS63+60G/A^‡
60	Brother	55	nd	nd
	Sister	49	nd	nd
63	Brother	57	378T>A (Asp126Glu)	IVS25-13insA^†
	Sister	43	nd	IVS25-13insA^†; IVS63+60G/A^‡
64	Brother	62	5557G>A (Asp1853Asn)^‡	IVS15-48T/C; IVS24-10delT
	Brother	64	5557G>A (Asp1853Asn)^‡,^2-153	IVS16+78G/A
78	Uncle	54	nd	IVS25-13insA^†,^2-153
	Uncle	50	ne	ne
	Nephew	32	nd	IVS4-36insTG^2-153; 4578C>T; IVS63+60G/A^‡,^2-153
85	Brother	60	nd	IVS25-13insA^†; IVS63+60G/A^‡
	Brother	49	2572T>C (Phe858Leu)	nd
96	Brother	65	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS25-13insA^†,^2-153
	Brother	61	nd	IVS4-36insTG^2-153; IVS63+60G/A^‡,^2-153
98	Brother	67	378T>A(Asp126Glu);	IVS16+78G/A; IVS24-10delT; IVS25-13insA^†
			2572T>C (Phe858Leu)
			5557G>A (Asp1853Asn)^‡
	Brother	64	5557G>A (Asp1853Asn)^‡	IVS4-36insTG; IVS16+78G/A; IVS24-10delT; IVS25-13insA^†
115	Brother	53	2572T>C (Phe858Leu);	IVS24-10delT
			5557G>A (Asp1853Asn)^‡
	Brother	51	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS63+60G/A^‡,^2-153
117	Sister	65	nd	nd
	Sister	64	nd	nd
118	Father	79	nd	nd
	Daughter	46	nd	IVS63+60G/A^‡
138	Sister	64	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS25-13insA^†,^2-153
	Brother	74	nd	IVS25-13insA^†
162	Brother	54	5557G>A (Asp1853Asn)^‡	IVS24-10delT; IVS25-13insA^†; IVS63+60G/A^‡
	Brother	61	5557G>A (Asp1853Asn)^‡,^2-153	IVS25-13insA^†,^2-153

ne indicates not examined; nd, not detected; and nk, not known.

†

Nucleotide change reported at Genbank (http://www.ncbi.nlm.nih.gov/).

‡

Nucleotide change reported at Virginia MasonATM mutation database (http://www.vmresearch.org/atm.htm).

F2-153

Apparent homozygosity.

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