Association study of the ERCC4 missense variant p.R415Q in three breast cancer case-control series.

Results from an association study of the missense substitution p.R415Q in case-control series from Germany (HaBCS: 932 cases/983 controls), Belarus (HMBCS: 1,937 cases/1,229 controls) and Russia (HUBCS: 829 cases/656 controls). Minor allele frequency (MAF) in controls was 0.08 in HaBCS and 0.06 in HMBCS, and was 0.06 for each of both, Russians and Tatars in HUBCS but was lower in the Bashkir subpopulation (MAF 0.01). Per-allele odds ratios were calculated in comparison to the controls for all breast cancer patients and for specific subgroups after stratification by ductal histology, 1° degree family history of breast cancer, tumour grade (high grade defined as >2) and – where available - estrogen receptor status and nodal status. Ptrend values were calculated under an additive model using Armitage trend tests. For the total, Mantel-Haenszel Odds Ratio and p-value were obtained from a combined analysis with stratification by study population.*p**p-value for ductal histology remained significant after Bonferroni correction.