ATM variants and cancer risk in breast cancer patients from Southern Finland

BMC Cancer

Table 3 ATM sequence variants and haplotypes found in 47 Finnish familial breast cancer patients

	variant	ex5	ex9	ex10**	ex11**	ex14**	ex15	ex20	ex31**	ex32	ex39a	ex39b***	ex39c***	ex40	ex41	ex46	ex47**	ex62
	freq.	1/47	5/47	1/47	1/47	1/47	1/47	1/47	1/47	1/47	1/47	4/47	18/47*	1/47	1/47	2/47	1/47	2/47
freq.	haplotype
0.65	1	T	C	C	T	A	T	-	A	C	G	T	G	G	T	T	G	A
0.01	2	T	C	C	T	A	T	-	A	C	G	T	G	G	T	T	G	C
0.01	3	T	C	C	T	A	T	-	A	C	G	T	G	G	T	T	T	A
0.02	4	T	C	C	T	A	T	-	A	C	G	T	G	G	T	C	G	A
0.01	5	T	C	C	T	A	T	-	A	C	G	T	G	A	T	T	G	C
0.01	6	T	C	C	T	A	T	-	A	C	C	T	G	G	T	T	G	A
0.15	7	T	C	C	T	A	T	-	A	C	G	T	A	G	T	T	G	A
0.02	8	T	C	C	T	A	T	-	A	C	G	C	A	G	T	T	G	A
0.01	9	T	C	C	T	A	T	-	A	T	G	C	A	G	T	T	G	A
0.01	10	T	C	C	T	A	T	-	G	C	G	T	A	G	T	T	G	A
0.01	11	T	C	C	T	G	T	-	A	C	G	T	G	G	T	T	G	A
0.01	12	T	C	C	G	A	T	-	A	C	G	T	A	G	T	T	G	A
0.01	13	T	C	T	T	A	T	-	A	C	G	C	A	G	T	T	G	A
0.01	14	T	T	C	T	A	T	A	A	C	G	T	G	G	C	T	G	A
0.03	15	T	T	C	T	A	T	-	A	C	G	T	G	G	T	T	G	A
0.01	16	T	T	C	T	A	C	-	A	C	G	T	G	G	T	T	G	A
0.01	17	C	C	C	T	A	T	-	A	C	G	T	G	G	T	T	G	A
variant	nt change	aa change	rs-number
ex5	162T>C	Y54Y	3218690
ex9	735C>T	V245V	3218674 ^#
ex10	998C>T	S333F	28904919
ex11	ivs10(-6)T>G	-	-
ex14	1814A>G	H605R	-
ex15	2119T>C	S707P	4986761 ^#
ex20	ivs20(+28)insA	-	-
ex31	4424A>G	Y1475C	-
ex32	4578C>T	P1526P	1800889 ^#
ex39a	ivs38(-15)G>C	-	3092828
ex39b	ivs38(-8)T>C	-	3092829 ^#
ex39c	5557G>A	D1853N	1801516 ^#
ex40	ivs40(+27)G>A	-	3218686
ex41	5793T>C	A1931A	3092910
ex46	ivs45(-54)T>C	-	-
ex47	6539G>T	G2180V	-
ex62	ivs 62(+8)A>C	-	-

# these SNPs have been studied in the HapMap project
* two homozygotes
** studied further in series of breast cancer cases and controls, see also Table 4.
*** studied further in series of breast cancer cases and controls, see also Table 1.

ISSN: 1471-2407