No Association between BRCA2 N372H and Breast Cancer Risk

Abstract

Detailed information regarding the design of this nested case-control study (cases, n = 1,313; controls, n = 1,717) has been published previously (4). In brief, 32,826 women were followed for incident disease from time of blood sample collection in 1989 and 1990 up to May 31, 2000. We genotyped a G/A single nucleotide polymorphism at bp 30,763,310 on contig NT_024524.396 (July 2003 assembly, g30763310a, rs206340) recently described by Freedman et al. (1) and the N372H (rs144848) polymorphism in the BRCA2 gene via TaqMan analysis (Applied Biosystems, Foster City, CA). Taqman primers, probes, and conditions for genotyping assays are available on request. All genotyping was done with laboratory personnel blinded to case-control status of the samples, which included quality control samples for validation. Concordance for quality control samples was 100%. Statistical analysis was carried out in SAS version 8.2 (SAS Institute, Cary, NC). Genotype-specific relative risks were calculated using conditional logistic regression using PROC PHREG, controlling for age of menopause, age at menarche, age at first birth and parity, postmenopausal hormone use, history of benign breast disease, and family history of breast cancer. Tests for deviation from Hardy-Weinberg equilibrium were carried out using PROC ALLELE. Interaction P values were calculated by likelihood ratio testing using a nominal model.