Rare variants in the ATMgene and risk of breast cancer

Breast Cancer Research

Table 3 Breast cancer risk associated with each group of ATM variants

Group	Number of Variants	Cases	Controls	Odds Ratio	95% confidence interval
No variant (referent)	-	2,423	1,367	1.0
Group 1	19	79	45	0.99	0.67-1.45
Group 2	8	59	334	1.10	0.71-1.70
Group 3	3	9	2	2.55	0.54-12.0

Group 1 includes all rare variants classified by the A-GVGD algorithm as C0; Group 3 includes all rare variants that are C55/C65 in either the FAT or kinase domains of the ATM protein as well as all truncating variants and splice variants at the consensus sites. Group 2 includes all other rare variants (see Additional file 1 for details). ATM, Ataxia telangiectasia mutated.

ISSN: 1465-542X