Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families

Table 2 ATR sequence variant allele frequencies in different cohorts

			French-Canadian families		Validation group		Finnish families²		Reported in NCBI database
SNP	SNP ID¹	dbSNP ID	n	MAF	n	MAF	n	Carrier frequency	MAF
-	C.268C>T	N/A	51	0.000	-	-	126	0.127	N/A
5*	C.632C>T	rs2227928	52	0.385	45	0.389	126	0.460	0.425
6	c.946G>A	rs28897764	50	0.047	42	0.037	126	0.000	N/A
11	C.1776A>T	rs2227930	53	0.415	-	-	126	0.508	0.412
12	C.1815T>C	rs2227929	53	0.406	-	-	126	0.468	0.378
14	c.2290A>G	N/A	50	0.010	41	0.000	126	0.000	N/A
16	c.2875G>A	rs28910271	48	0.052	46	0.000	126	0.000	0.010
27	c.5208T>C	rs2227931	49	0.441	-	-	126	0.238	0.263
30	c.5460T>C	rs2227932	52	0.115	-	-	126	0.262	0.105
32	c. 5739-4del9+T	N/A	54	0.046	42	0.012	126	0.000	N/A
34	C.6394T>G	rs28910273	54	0.009	44	0.000	126	0.008	0.016
39	c.7274G>A	rs2229032	51	0.147	41	0.170	126	0.278	0.109
40	c.7875A>G	rs1802904	50	0.120	-	-	126	0.270	0.101

¹ According to the nomenclature of the Human Genome Variation Society
² Heikkinen et al. 2005, Breast Cancer Research 7 :R495-R501
N/A: Information not available for this SNP or not reported in dbSNP
- Not genotyped
* T allele is considered as the common allele according to the reference sequence NM_001184
MAF : Minor Allele Frequency

ISSN: 1471-2407