Summary Results from BCAC-CIMBA Case-only analysis (2021)

The downloadable files regressionResultsAfterReimputation_BRCA1_10000.txt and regressionResultsAfterReimputation_BRCA2_10000.txt below contain the top 10,000 SNPs ranked by p-value after QC (MAF >= 0,01 and r2 >= 0,5), respectively for BRCA1 and BRCA2 case-only analyses after reimputation with BCAC and CIMBA data simultaneously. Reimputation has been performed on the significant regions identified by the case-only analyses of data imputed separately.


The analyses are described in Coignard et al (Nat Commun, 2021). “A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.”


You are free to use this resource in a publication. If you do so, please cite Coignard et al (Nat Commun, 2021) and please acknowledge the following:

The breast cancer genome-wide association analyses for BCAC and CIMBA were supported by Cancer Research UK (PPRPGM-Nov20\100002, C1287/A10118, C1287/A16563, C1287/A10710, C12292/A20861, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565) and the Gray Foundation, The National Institutes of Health (CA128978, X01HG007492- the DRIVE consortium), the PERSPECTIVE project supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research (grant GPH-129344) and the Ministère de l’Économie, Science et Innovation du Québec through Genome Québec and the PSRSIIRI-701 grant, the Quebec Breast Cancer Foundation, the European Community’s Seventh Framework Programme under grant agreement n° 223175 (HEALTH-F2-2009-223175) (COGS), the European Union’s Horizon 2020 Research and Innovation Programme (634935 and 633784), the Post-Cancer GWAS initiative (U19 CA148537, CA148065 and CA148112 – the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer (CRN-87521), the Komen Foundation for the Cure, the Breast Cancer Research Foundation and the Ovarian Cancer Research Fund. All studies and funders are listed in Coignard et al (Nat Commun, 2020).

Terms of Use

The sample size and precision of the data presented should preclude identification of any individual subject. However, in downloading these data, you undertake not to attempt to identify individual subjects and not to repost these data to a third party website.

Download files

The top 10,000 SNPs, as described above, can be found in the following files.

  • regressionResultsAfterReimputation_BRCA1_10000.txt
  • regressionResultsAfterReimputation_BRCA2_10000.txt
  • Listings of the reimputed regions using all BCAC and CIMBA-BRCA1 mutation carriers samples combined, or all BCAC and CIMBA-BRCA2 mutation carriers samples combined, can be found in the following BRCA1 and BRCA2 files respectively.

  • reimputed_region_BRCA1.txt
  • reimputed_region_BRCA2.txt