Additional file 1: Table S1. of Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Ethics committees that granted approval for the access and use of the data for this study. Table S2. Participant counts by center and mutation. Table S3. Primers used for PCR and Sanger sequencing. Table S4. Primers used in micro-satellite analysis for loss of heterozygosity. Table S5. Micro-satellite loss of heterozygosity and sequencing analysis results. (DOC 177 kb

Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb

Per allele hazard ratios (HR) and 95% confidence intervals (CI) of previously published breast cancer loci among <i>BRCA2</i> mutation carriers from previous reports and from the iCOGS array, ordered by statistical significance of the region.

1<p>Reporting status of the SNP is either previously reported or novel to this report.</p>2<p>p-value was calculated based on the 1-degree of freedom score test statistic.</p>3<p>rs311499 could not be designed onto the iCOGS array. A surrogate (r² = 1.0), rs311498, was included, however, and reported here.</p>4<p>Stronger associations were originally reported for the SNP, assuming a dominant or recessive model of the ‘risk allele’.</p

Study-adjusted association between SNP rs2180341 and breast cancer risk by age among cases and controls of European ancestry, Breast Cancer Association Consortium (BCAC).

<p>Study-adjusted association between SNP rs2180341 and breast cancer risk by age among cases and controls of European ancestry, Breast Cancer Association Consortium (BCAC).</p

Associations between SNPs in the region surrounding rs9348512 on chromosome 6 and breast cancer risk.

<p>Results based on imputed and observed genotypes. The blue spikes indicate the recombination rate at each position. Genotyped SNPs are represented by diamonds and imputed SNPs are represented by squares. Color saturation indicates the degree of correlation with the SNP rs9348512.</p

Forest plot of SNP rs2180341 per-allele odds ratios (ORs) and 95% confidence intervals (CIs) with the risk of breast cancer among studies from Breast Cancer Association Consortium (BCAC) breast cancer cases and controls of European ancestry.

<p>Studies are weighted and ranked according to the inverse of the between-study and within study variation of the log odds ratio, which is also represented by the size of the shaded box around the study-specific point estimate. The solid line indicates the OR = 1 and the dashed lined indicates the summary OR of all studies. A description of the study acronyms can be found in the <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0035706#pone.0035706.s001" target="_blank">Supporting Information S1</a>.</p

Association between SNP rs2180341 and breast cancer risk by estrogen receptor (ER) status among cases and controls of European ancestry, Breast Cancer Association Consortium (BCAC).

<p>Association between SNP rs2180341 and breast cancer risk by estrogen receptor (ER) status among cases and controls of European ancestry, Breast Cancer Association Consortium (BCAC).</p

Adjusted¹, weighted hazard ratios (HRs) and 95% confidence intervals (CIs) for the association between SNP rs2180341 genotype and breast cancer risk, in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).²

1<p>Adjusted for birth year and study.</p>2<p>Restricted to women of European descent.</p>3<p>MAF = Minor allele frequency.</p

SNP rs2180341 per-allele hazard ratios (HRs) and 95% confidence intervals (CIs) among Consortium of Investigators of Modifiers of <i>BRCA1/2</i> (CIMBA) in A. <i>BRCA1</i> mutation carriers B. <i>BRCA2</i> mutation carriers.

<p>Studies are weighted and ranked according to the inverse of the between-study and within study variation of the log odds ratio, which is also represented by the size of the shaded box around the study-specific point estimate. The solid line indicates the OR = 1 and the dashed lined indicates the summary OR of all studies. A description of the study acronyms can be found in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0035706#pone.0035706.s001" target="_blank">Supporting Information S1</a>.</p

Breast cancer hazard ratios (HR) and 95% confidence intervals (CI) of novel breast cancer loci with P-values of association <10⁻⁵ among <i>BRCA2</i> mutation carriers.

1<p>P-value was calculated based on the 1-degree of freedom score test.</p